ClinVar Miner

List of variants reported as likely pathogenic for Gaucher disease

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Total variants: 16
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HGVS dbSNP
NM_000157.4(GBA):c.1052G>C (p.Trp351Ser) rs1553217294
NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) rs121908305
NM_000157.4(GBA):c.1102C>T (p.Arg368Cys) rs374306700
NM_000157.4(GBA):c.1171G>C (p.Val391Leu) rs398123527
NM_000157.4(GBA):c.1250G>A (p.Trp417Ter) rs754743440
NM_000157.4(GBA):c.1279G>T (p.Glu427Ter) rs149171124
NM_000157.4(GBA):c.1296G>A (p.Trp432Ter) rs1484043383
NM_000157.4(GBA):c.497A>T (p.Asp166Val) rs79796061
NM_000157.4(GBA):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA):c.535G>C (p.Asp179His) rs147138516
NM_000157.4(GBA):c.661C>A (p.Pro221Thr)
NM_000157.4(GBA):c.680A>G (p.Asn227Ser) rs364897
NM_000157.4(GBA):c.681T>G (p.Asn227Lys) rs381418
NM_000157.4(GBA):c.894C>A (p.Phe298Leu)
NM_000157.4(GBA):c.896T>C (p.Ile299Thr) rs794727908
NM_000157.4(GBA):c.914del (p.Pro305fs)

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