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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)	rs281860676
NM_000543.5(SMPD1):c.442_446del (p.Trp148fs)
NM_000543.5(SMPD1):c.505dup (p.His169fs)	rs781535659
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)	rs757934797

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