List of variants in gene LOC130005193, SMPD1 studied for Niemann-Pick disease, type A

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.-45G>C	rs79282481	0.01446
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)	rs199836262	0.00063
NM_000543.5(SMPD1):c.-39A>T	rs767402489	0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)	rs556155962	0.00001
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
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.56del (p.Gln19fs)	rs1554933746
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)	rs1554933751
NM_000543.5(SMPD1):c.66C>T (p.Asp22=)	rs886048444
NM_000543.5(SMPD1):c.7del (p.Arg3fs)	rs281860663
NM_000543.5(SMPD1):c.84del (p.Gly29fs)	rs750157176

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