ClinVar Miner

List of variants reported as likely pathogenic for Niemann-Pick disease, type A by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1264-1G>T	rs1057516454
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)	rs281860676
NM_000543.5(SMPD1):c.354del (p.Ile119fs)	rs727504165

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