ClinVar Miner

List of variants reported as pathogenic for Niemann-Pick disease, type B; Niemann-Pick disease, type A by Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1054del (p.Glu352fs) rs1847952502
NM_000543.5(SMPD1):c.1091+1G>A rs1847955457
NM_000543.5(SMPD1):c.1101del (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1296_1297del (p.His432fs) rs1848042860
NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter) rs1848088118
NM_000543.5(SMPD1):c.199dup (p.Gln67fs) rs1847871015
NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs) rs1847871996
NM_000543.5(SMPD1):c.499del (p.Cys167fs) rs1847910379
NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer) rs1590738506
NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs) rs1847857299
NM_000543.5(SMPD1):c.625del (p.Leu209fs) rs1847921591
NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter) rs1847921909
NM_000543.5(SMPD1):c.996dup (p.Phe333fs) rs387906289

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