List of variants reported as pathogenic for Niemann-Pick disease, type B; Niemann-Pick disease, type A by Centogene AG - the Rare Disease Company

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	rs750779804	0.00001
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)	rs748411156
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)	rs120074117
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)	rs751269562

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