ClinVar Miner

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

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln) rs767722360 0.00008
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser) rs1554935371 0.00001
NM_000543.5(SMPD1):c.1833C>G (p.His611Gln) rs1397949984 0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser) rs373475928 0.00001
NM_000543.5(SMPD1):c.107_108insCTGGC (p.Leu37fs) rs1554933813
NM_000543.5(SMPD1):c.107delinsCGCTGGCGCTGGC (p.Val36delinsAlaLeuAlaLeuAla) rs1847861920
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) rs794727705
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu) rs1848061944
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys) rs267607074
NM_000543.5(SMPD1):c.1558A>C (p.Ile520Leu)
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954

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