List of variants reported as pathogenic for Gaucher disease type III by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
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.1504C>T (p.Arg502Cys)	rs80356771	0.00006
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.754T>A (p.Phe252Ile)	rs381737	0.00001
NM_000157.4(GBA1):c.1174C>G (p.Arg392Gly)	rs121908308
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)	rs77369218
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)	rs121908312
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
NM_001005741.2(GBA1):c.[880T>G;1342G>C]

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