ClinVar Miner

List of variants in gene SMPD1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=) rs35098198 0.01843
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln) rs113467489 0.00629
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met) rs140806787 0.00192
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_000543.5(SMPD1):c.762G>A (p.Leu254=) rs143939609 0.00104
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228 0.00072
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile) rs149939736 0.00051
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys) rs140202512 0.00034
NM_000543.5(SMPD1):c.1626A>C (p.Arg542=) rs774163596 0.00023
NM_000543.5(SMPD1):c.1021C>T (p.Arg341Cys) rs369841281 0.00014
NM_000543.5(SMPD1):c.708G>A (p.Pro236=) rs374604948 0.00014
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser) rs202244080 0.00014
NM_000543.5(SMPD1):c.1037C>T (p.Ala346Val) rs373508268 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.729C>T (p.Ala243=) rs149476159 0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=) rs201134693 0.00011
NM_000543.5(SMPD1):c.1081C>T (p.Arg361Cys) rs370198638 0.00009
NM_000543.5(SMPD1):c.733T>C (p.Tyr245His) rs370178721 0.00009
NM_000543.5(SMPD1):c.1135C>T (p.Leu379Phe) rs371738717 0.00008
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile) rs370828368 0.00008
NM_000543.5(SMPD1):c.1125C>T (p.Pro375=) rs376871416 0.00006
NM_000543.5(SMPD1):c.1335A>G (p.Val445=) rs769400504 0.00006
NM_000543.5(SMPD1):c.373C>T (p.Leu125=) rs370048730 0.00006
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=) rs774989668 0.00005
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=) rs140770832 0.00004
NM_000543.5(SMPD1):c.102C>G (p.Gly34=) rs889113421 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.318+10G>C rs367666720 0.00002
NM_000543.5(SMPD1):c.627G>C (p.Leu209=) rs200443318 0.00002
NM_000543.5(SMPD1):c.1194C>A (p.Ser398=) rs967970847 0.00001
NM_000543.5(SMPD1):c.1341-9T>C rs528939343 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1527C>T (p.Ser509=) rs944330326 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1653G>A (p.Leu551=) rs377371222 0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=) rs369787650 0.00001
NM_000543.5(SMPD1):c.319-5T>C rs958654789 0.00001
NM_000543.5(SMPD1):c.393C>T (p.Ala131=) rs778655099 0.00001
NM_000543.5(SMPD1):c.591T>C (p.Gly197=) rs1328127205 0.00001
NM_000543.5(SMPD1):c.675C>T (p.Asp225=) rs1030101180 0.00001
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) rs550365194
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000543.5(SMPD1):c.108GCTGGC[10] (p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7]) rs3838786
NM_000543.5(SMPD1):c.1091+26G>A
NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1227G>C (p.Val409=) rs768283171
NM_000543.5(SMPD1):c.1227G>T (p.Val409=) rs768283171
NM_000543.5(SMPD1):c.1263A>G (p.Lys421=)
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs) rs398123476
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) rs754979734
NM_000543.5(SMPD1):c.1556A>T (p.Tyr519Phe)
NM_000543.5(SMPD1):c.1557C>T (p.Tyr519=) rs756192072
NM_000543.5(SMPD1):c.1586C>T (p.Pro529Leu)
NM_000543.5(SMPD1):c.1595T>C (p.Ile532Thr)
NM_000543.5(SMPD1):c.1863C>T (p.Ala621=)
NM_000543.5(SMPD1):c.681G>C (p.Leu227=) rs1208751863
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.925C>T (p.Leu309=)
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)

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