List of variants in gene SMPD1 reported as pathogenic for not provided

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: 38

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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.475T>C (p.Cys159Arg)	rs727504166	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.730G>A (p.Gly244Arg)	rs120074122	0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	rs587779408	0.00003
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)	rs201550531	0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)	rs398123479	0.00002
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	rs120074126	0.00001
NM_000543.5(SMPD1):c.1341-1G>A	rs1057516854	0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)	rs370129081	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_000543.5(SMPD1):c.1092-1G>C	rs398123474
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)	rs1342372980
NM_000543.5(SMPD1):c.114del (p.Leu39fs)	rs886043098
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)	rs120074121
NM_000543.5(SMPD1):c.1264-1G>A	rs1057516454
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)	rs120074127
NM_000543.5(SMPD1):c.1380del (p.His461fs)	rs1848061158
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)	rs398123476
NM_000543.5(SMPD1):c.1445_1448del (p.Phe482fs)	rs1848063769
NM_000543.5(SMPD1):c.1486+5G>A	rs1446986999
NM_000543.5(SMPD1):c.1533del (p.His511fs)	rs1564927308
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.318+1G>C	rs2134006884
NM_000543.5(SMPD1):c.354del (p.Ile119fs)	rs727504165
NM_000543.5(SMPD1):c.558_559insT (p.Pro187fs)	rs1554934241
NM_000543.5(SMPD1):c.564del (p.Lys189fs)	rs756366019
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)	rs748165078
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter)	rs120074122
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.996del (p.Phe333fs)	rs387906289

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