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

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)	rs1057517195	0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)	rs120074124	0.00004
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)	rs120074122	0.00003
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)	rs752148586	0.00002
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	rs120074126	0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)	rs763566905	0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs)	rs727504167	0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)	rs200763423	0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)	rs120074128	0.00001
NM_000543.4(SMPD1):c.[1343A>G];[1426C>T]
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser)	rs120074123
NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg)	rs267607073
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)	rs120074127
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)	rs797044798
NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser)	rs2134010914
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)	rs794727252
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)	rs786204506
NM_000543.5(SMPD1):c.996del (p.Phe333fs)	rs387906289

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