ClinVar Miner

List of variants studied for Gaucher disease by OMIM

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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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.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.1049A>G (p.His350Arg) rs78198234 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305 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.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 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.1043C>T (p.Ala348Val) rs78396650
NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys) rs121908304
NM_000157.4(GBA1):c.1141T>G (p.Cys381Gly) rs121908306
NM_000157.4(GBA1):c.1174C>G (p.Arg392Gly) rs121908308
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA1):c.1228C>G (p.Leu410Val) rs121908314
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1309G>T (p.Val437Phe) rs121908310
NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu) rs74598136
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) rs77369218
NM_000157.4(GBA1):c.1361C>G (p.Pro454Arg) rs121908295
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1506-1G>A rs1571964338
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser) rs121908301
NM_000157.4(GBA1):c.160G>T (p.Val54Leu) rs121908302
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu) rs77829017
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn) rs121908312
NM_000157.4(GBA1):c.481C>T (p.Pro161Ser) rs121908299
NM_000157.4(GBA1):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA1):c.533del (p.Pro178fs) rs397518434
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln) rs121908297
NM_000157.4(GBA1):c.73del (p.Leu25fs) rs397518433
NM_000157.4(GBA1):c.751T>C (p.Tyr251His) rs121908300
NM_000157.4(GBA1):c.763T>G (p.Phe255Val) rs121908303
NM_000157.4(GBA1):c.870C>A (p.Phe290Leu) rs121908313
NM_000157.4(GBA1):c.983C>T (p.Pro328Leu) rs121908298
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
NM_001005741.2(GBA1):c.[535G>C;c.1093G>A]
NM_001005741.2(GBA1):c.[880T>G;1342G>C]
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro) rs121918110
NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly) rs121918108
NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe) rs121918105
NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter) rs121918109
NM_002778.4(PSAP):c.1A>T (p.Met1Leu) rs121918106

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