R3HDM2 R3H domain containing 2

Canonical transcript: NM_014925

35 unique variant annotations were identified in 184 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
12-57648644-C-T c.2843G>A p.Arg948His Missense 24/24 - 1
12-57648752-C-T c.2735G>A p.Gly912Glu Missense 24/24 - 1
12-57649840-C-T c.2523G>A p.Lys841Lys Synonymous 23/24 - 1
12-57667261-G-C c.1303-3484C>G - IntronicSNV - 14/23 1
12-57667261-G-T c.1303-3484C>A - IntronicSNV - 14/23 1
12-57672913-G-A c.1302+1228C>T - IntronicSNV - 14/23 1
12-57674157-T-G c.1286A>C p.Asn429Thr Missense 14/24 - 1
12-57674204-GTTG-G c.1238_1240del p.Gln413del InFrameDeletion 14/24 - 1
12-57676255-T-A c.1129+1352A>T - IntronicSNV - 13/23 2
12-57681122-G-A c.896+1518C>T - IntronicSNV - 12/23 1
12-57682956-C-T c.811-133G>A - IntronicSNV - 10/23 1
12-57684978-C-T c.811-2155G>A - IntronicSNV - 10/23 1
12-57693060-G-A c.421+75C>T - IntronicSNV - 6/23 1
12-57696677-G-A c.207+282C>T - IntronicSNV - 4/23 4
12-57704109-T-C c.103A>G p.Thr35Ala Missense 3/24 - 1
12-57707295-C-T c.-105-2979G>A - IntergenicSNV - 1/23 87
12-57722187-T-C c.-35-17941A>G - IntergenicSNV - 2/23 1
12-57725197-G-A c.-35-20951C>T - IntergenicSNV - 2/23 4
12-57751854-C-T c.-36+37678G>A - intron_variant - 2/23 1
12-57756005-T-C c.-36+33527A>G - intron_variant - 2/23 1
12-57766392-G-A c.-36+23140C>T - intron_variant - 2/23 2
12-57766392-G-C c.-36+23140C>G - intron_variant - 2/23 2
12-57766392-G-T c.-36+23140C>A - intron_variant - 2/23 2
12-57770098-C-T c.-36+19434G>A - intron_variant - 2/23 1
12-57781893-G-A c.-36+7639C>T - intron_variant - 2/23 1
12-57789359-G-A c.-36+173C>T - intron_variant - 2/23 1
12-57791833-T-C c.-105-2232A>G - intron_variant - 1/23 2
12-57791833-T-G c.-105-2232A>C - intron_variant - 1/23 2
12-57807114-T-C c.-106+17389A>G - intron_variant - 1/23 1
12-57809456-C-T c.-106+15047G>A - intron_variant - 1/23 33
12-57810104-T-C c.-106+14399A>G - intron_variant - 1/23 1
12-57810254-T-C c.-106+14249A>G - intron_variant - 1/23 1
12-57815675-T-C c.-106+8828A>G - intron_variant - 1/23 6
12-57823192-C-T c.-106+1311G>A - intron_variant - 1/23 4
12-57823585-A-C c.-106+918T>G - intron_variant - 1/23 5