ClinVar Miner

List of variants reported as likely pathogenic for Gaucher disease

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.497A>T (p.Asp166Val) rs79796061 0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) rs381418 0.00003
NM_000157.4(GBA1):c.492C>G (p.Ser164Arg) rs746019841 0.00002
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305 0.00001
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) rs374306700 0.00001
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) rs794727908 0.00001
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) rs1553217294
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu) rs398123527
NM_000157.4(GBA1):c.1214G>A (p.Ser405Asn)
NM_000157.4(GBA1):c.1215C>A (p.Ser405Arg)
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly) rs1450426641
NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter) rs754743440
NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter) rs149171124
NM_000157.4(GBA1):c.1296G>A (p.Trp432Ter) rs1484043383
NM_000157.4(GBA1):c.1300C>T (p.Arg434Cys)
NM_000157.4(GBA1):c.1505+2T>A rs2148070287
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
NM_000157.4(GBA1):c.39del (p.Lys13fs)
NM_000157.4(GBA1):c.454+1G>A rs539166948
NM_000157.4(GBA1):c.484A>G (p.Met162Val)
NM_000157.4(GBA1):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr) rs866075757
NM_000157.4(GBA1):c.776A>G (p.Tyr259Cys)
NM_000157.4(GBA1):c.847T>C (p.Tyr283His)
NM_000157.4(GBA1):c.894C>A (p.Phe298Leu) rs1671825414
NM_000157.4(GBA1):c.914del (p.Pro305fs) rs1366567865

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