List of variants in gene combination LOC130005193, SMPD1 reported as uncertain significance 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)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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.56del (p.Gln19fs)	rs1554933746
NM_000543.5(SMPD1):c.66C>T (p.Asp22=)	rs886048444

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