ClinVar Miner

List of variants reported as pathogenic for Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00016
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) rs381418 0.00003
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp) rs121908308 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.595_596del (p.Leu199fs) rs749714463 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly) rs1450426641
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) rs398123530
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr) rs866075757
NM_000157.4(GBA1):c.914del (p.Pro305fs) rs1366567865
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys) rs765633380

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