List of variants reported as pathogenic for Gaucher disease perinatal lethal 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.887G>A (p.Arg296Gln)	rs78973108	0.00004
NM_000157.4(GBA1):c.1049A>G (p.His350Arg)	rs78198234	0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)	rs79653797	0.00001
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)	rs121908309
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.1506-1G>A	rs1571964338
NM_000157.4(GBA1):c.509G>T (p.Arg170Leu)	rs80356763
NM_000157.4(GBA1):c.533del (p.Pro178fs)	rs397518434
NM_000157.4(GBA1):c.870C>A (p.Phe290Leu)	rs121908313
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]

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