ClinVar Miner

List of variants reported as likely pathogenic for Niemann-Pick disease, type A by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)	rs1847910654	0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)	rs200763423	0.00001

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