ClinVar Miner

List of variants in gene RHAG reported as pathogenic for anemia

Included ClinVar conditions (281):
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000324.3(RHAG):c.157+1G>A rs375508949 0.00004
NM_000324.3(RHAG):c.1067+1G>A rs1562012617 0.00001
NM_000324.3(RHAG):c.3G>T (p.Met1Ile) rs121918588 0.00001
NM_000324.2(RHAG):c.[808G>A;838G>A]
NM_000324.3(RHAG):c.1086del (p.Ala363fs) rs1562011389
NM_000324.3(RHAG):c.1139G>T (p.Gly380Val) rs121918589
NM_000324.3(RHAG):c.154_157delinsGA (p.Pro52fs) rs387906519
NM_000324.3(RHAG):c.182T>G (p.Ile61Arg) rs863225469
NM_000324.3(RHAG):c.194T>C (p.Phe65Ser) rs863225468
NM_000324.3(RHAG):c.236G>A (p.Ser79Asn) rs121918586
NM_000324.3(RHAG):c.447T>G (p.Ile149Met) rs1554174425
NM_000324.3(RHAG):c.544G>A (p.Gly182Ser)
NM_000324.3(RHAG):c.836G>A (p.Gly279Glu) rs121918587
NM_000324.3(RHAG):c.920C>T (p.Ser307Phe)
NM_000324.3(RHAG):c.946-1G>A rs1562012697

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