List of variants in gene SMPD1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)	rs559088058	0.00006
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)	rs182812968	0.00004
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.739G>A (p.Gly247Ser)	rs587779408	0.00003
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)	rs372287825	0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)	rs398123479	0.00002
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)	rs776442314	0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)	rs755160837	0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	rs120074126	0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)	rs759389193	0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)	rs120074119	0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)	rs370129081	0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)	rs1847910654	0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs)	rs727504167	0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	rs750779804	0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)	rs120074128	0.00001
NM_000543.5(SMPD1):c.1092-1G>C	rs398123474
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)	rs786204514
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)	rs120074127
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)	rs398123476
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)	rs267607075
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)	rs281860665
NM_000543.5(SMPD1):c.1497_1498inv (p.Tyr500His)
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)	rs770962157
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)	rs1057516403
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)	rs786204733
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)	rs786204694
NM_000543.5(SMPD1):c.564del (p.Lys189fs)	rs756366019
NM_000543.5(SMPD1):c.564dup (p.Lys189fs)	rs756366019
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)	rs797044798
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)	rs794727252
NM_000543.5(SMPD1):c.842_849dup (p.His284fs)	rs281860677
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)	rs786204506
NM_000543.5(SMPD1):c.996del (p.Phe333fs)	rs387906289

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