ClinVar Miner

List of variants in gene combination LOC130005193, SMPD1 reported as pathogenic for Niemann-Pick disease, type B; Niemann-Pick disease, type A

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.43del (p.Ser15fs) rs2134004628
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter) rs1428487333
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs) rs1847857299
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
NM_000543.5(SMPD1):c.7del (p.Arg3fs) rs281860663
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176

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