ClinVar Miner

List of variants reported as likely pathogenic for Gaucher disease

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Total variants: 8
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HGVS dbSNP
NM_000157.4(GBA):c.1052G>C (p.Trp351Ser) rs1553217294
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.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.497A>T (p.Asp166Val) rs79796061
NM_000157.4(GBA):c.535G>C (p.Asp179His) rs147138516
NM_000157.4(GBA):c.680A>G (p.Asn227Ser) rs364897

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