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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.56del (p.Gln19fs)	rs1554933746	0.00001
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)	rs2493798336
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)	rs2493798396
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)	rs1205990349
NM_000543.5(SMPD1):c.39del (p.Arg14fs)	rs2134004594
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter)	rs1428487333
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)	rs1554933751

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