ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)	rs200763423	0.00001
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg)	rs2134013368
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)	rs120074127

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