List of variants reported for Niemann-Pick disease, type A by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)	rs281860676
NM_000543.5(SMPD1):c.1500C>A (p.Tyr500Ter)
NM_000543.5(SMPD1):c.1510G>C (p.Gly504Arg)
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.338G>T (p.Arg113Leu)	rs149770879
NM_000543.5(SMPD1):c.442_446del (p.Trp148fs)	rs2493804110
NM_000543.5(SMPD1):c.505dup (p.His169fs)	rs781535659
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)	rs757934797

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