List of variants in gene combination LOC130005193, SMPD1 reported as likely benign for Niemann-Pick disease, type B; 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: 20

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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.39C>T (p.Pro13=)	rs775473869	0.00004
NM_000543.5(SMPD1):c.75C>T (p.Ala25=)	rs1312090680	0.00001
NM_000543.5(SMPD1):c.84C>T (p.Pro28=)	rs577769499	0.00001
NM_000543.5(SMPD1):c.90C>A (p.Leu30=)	rs748793138	0.00001
NM_000543.5(SMPD1):c.24C>A (p.Leu8=)
NM_000543.5(SMPD1):c.30G>A (p.Gln10=)	rs1847855057
NM_000543.5(SMPD1):c.33C>T (p.Ser11=)
NM_000543.5(SMPD1):c.36C>T (p.Cys12=)	rs767287886
NM_000543.5(SMPD1):c.45C>T (p.Ser15=)
NM_000543.5(SMPD1):c.49C>A (p.Arg17=)
NM_000543.5(SMPD1):c.60A>G (p.Gly20=)
NM_000543.5(SMPD1):c.66C>T (p.Asp22=)	rs886048444
NM_000543.5(SMPD1):c.6C>T (p.Pro2=)
NM_000543.5(SMPD1):c.72C>A (p.Thr24=)	rs886043870
NM_000543.5(SMPD1):c.72C>T (p.Thr24=)	rs886043870
NM_000543.5(SMPD1):c.84C>G (p.Pro28=)	rs577769499
NM_000543.5(SMPD1):c.90C>T (p.Leu30=)	rs748793138
NM_000543.5(SMPD1):c.9C>G (p.Arg3=)
NM_000543.5(SMPD1):c.9C>T (p.Arg3=)	rs2134004441

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