ClinVar Miner

List of variants in gene SMPD1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
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.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_000543.5(SMPD1):c.*83A>G rs138499616 0.00115
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.1091+9C>T rs143612450 0.00103
NM_000543.5(SMPD1):c.*272G>C rs528743699 0.00102
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228 0.00072
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216 0.00070
NM_000543.5(SMPD1):c.1340+12A>T rs140221837 0.00069
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile) rs149939736 0.00051
NM_000543.5(SMPD1):c.319-17C>A rs148370501 0.00048
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys) rs140202512 0.00034
NM_000543.5(SMPD1):c.1091+10G>A rs148067213 0.00033
NM_000543.5(SMPD1):c.338G>A (p.Arg113His) rs149770879 0.00029
NM_000543.5(SMPD1):c.657G>A (p.Thr219=) rs202032347 0.00017
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.103C>G (p.Leu35Val) rs201367689 0.00013
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.1253G>A (p.Arg418Gln) rs767722360 0.00008
NM_000543.5(SMPD1):c.448C>T (p.Arg150Cys) rs143719170 0.00007
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000543.5(SMPD1):c.1335A>G (p.Val445=) rs769400504 0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys) rs375570126 0.00006
NM_000543.5(SMPD1):c.1772G>A (p.Arg591His) rs189116118 0.00006
NM_000543.5(SMPD1):c.253G>A (p.Gly85Arg) rs368200803 0.00006
NM_000543.5(SMPD1):c.373C>T (p.Leu125=) rs370048730 0.00006
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) rs760203204 0.00006
NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys) rs570674743 0.00005
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His) rs148892841 0.00004
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His) rs750345585 0.00004
NM_000543.5(SMPD1):c.1197G>A (p.Thr399=) rs755182589 0.00004
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=) rs140770832 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr) rs369566518 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.605G>A (p.Arg202His) rs757850587 0.00004
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser) rs761144309 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.558G>A (p.Pro186=) rs1464825418 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser) rs142476839 0.00003
NM_000543.5(SMPD1):c.102C>G (p.Gly34=) rs889113421 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1340+8G>A rs373742012 0.00002
NM_000543.5(SMPD1):c.1386G>A (p.Val462=) rs763521056 0.00002
NM_000543.5(SMPD1):c.138G>T (p.Ala46=) rs200763765 0.00002
NM_000543.5(SMPD1):c.1477C>T (p.Leu493Phe) rs1345053174 0.00002
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110 0.00002
NM_000543.5(SMPD1):c.329A>G (p.Asn110Ser) rs747223735 0.00002
NM_000543.5(SMPD1):c.529A>T (p.Asn177Tyr) rs535997620 0.00002
NM_000543.5(SMPD1):c.*183T>G rs886048448 0.00001
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu) rs772473982 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp) rs398123475 0.00001
NM_000543.5(SMPD1):c.1337C>G (p.Ala446Gly) rs559092380 0.00001
NM_000543.5(SMPD1):c.1341-9T>C rs528939343 0.00001
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr) rs144624998 0.00001
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val) rs1402734026 0.00001
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.1517A>G (p.Tyr506Cys) rs774651673 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000543.5(SMPD1):c.1620G>A (p.Arg540=) rs778746534 0.00001
NM_000543.5(SMPD1):c.1637_1639dup (p.Gly546_Leu547insArg) rs776759986 0.00001
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr) rs758811926 0.00001
NM_000543.5(SMPD1):c.1676T>C (p.Val559Ala) rs770561559 0.00001
NM_000543.5(SMPD1):c.1681C>T (p.Arg561Cys) rs774190691 0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=) rs369787650 0.00001
NM_000543.5(SMPD1):c.1698G>T (p.Met566Ile) rs757364674 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1747T>G (p.Ser583Ala) rs748635475 0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr) rs750433951 0.00001
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys) rs763099671 0.00001
NM_000543.5(SMPD1):c.1833C>G (p.His611Gln) rs1397949984 0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr) rs375224040 0.00001
NM_000543.5(SMPD1):c.229G>A (p.Val77Met) rs560531338 0.00001
NM_000543.5(SMPD1):c.236G>A (p.Arg79Gln) rs201647015 0.00001
NM_000543.5(SMPD1):c.283A>C (p.Lys95Gln) rs886044321 0.00001
NM_000543.5(SMPD1):c.291A>G (p.Leu97=) rs144428799 0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser) rs373475928 0.00001
NM_000543.5(SMPD1):c.318+5G>A rs375723261 0.00001
NM_000543.5(SMPD1):c.319-5T>C rs958654789 0.00001
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys) rs749595299 0.00001
NM_000543.5(SMPD1):c.656C>T (p.Thr219Met) rs759439337 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.692G>A (p.Arg231Gln) rs746421946 0.00001
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr) rs748936934 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.753G>A (p.Lys251=) rs374458858 0.00001
NM_000543.5(SMPD1):c.820A>G (p.Met274Val) rs763437061 0.00001
NM_000543.5(SMPD1):c.856G>A (p.Val286Ile) rs1191633349 0.00001
NM_000543.5(SMPD1):c.886C>T (p.Arg296Trp) rs541061793 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000543.5(SMPD1):c.986T>G (p.Phe329Cys) rs886048446 0.00001
NM_000543.5(SMPD1):c.*5C>G rs761741269
NM_000543.5(SMPD1):c.*8G>A rs769660920
NM_000543.5(SMPD1):c.101G>A (p.Gly34Asp)
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His) rs200242334
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668
NM_000543.5(SMPD1):c.1044C>T (p.Ala348=) rs555187617
NM_000543.5(SMPD1):c.1054G>A (p.Glu352Lys)
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala) rs771028947
NM_000543.5(SMPD1):c.106G>T (p.Val36Leu)
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.107CGCTGG[3] (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.107_108insCTGGC (p.Leu37fs) rs1554933813
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.107delinsCGCTGGCGCTGGC (p.Val36delinsAlaLeuAlaLeuAla) rs1847861920
NM_000543.5(SMPD1):c.108GCTGGC[2] (p.38AL[2])
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.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
NM_000543.5(SMPD1):c.113C>A (p.Ala38Glu) rs71467507
NM_000543.5(SMPD1):c.113C>T (p.Ala38Val) rs71467507
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.1168G>C (p.Glu390Gln)
NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro) rs1299899778
NM_000543.5(SMPD1):c.1191C>T (p.Asn397=) rs766418804
NM_000543.5(SMPD1):c.1195A>G (p.Thr399Ala) rs886042824
NM_000543.5(SMPD1):c.1201C>G (p.Pro401Ala)
NM_000543.5(SMPD1):c.1204G>A (p.Ala402Thr)
NM_000543.5(SMPD1):c.1264-5A>G rs538875655
NM_000543.5(SMPD1):c.126_149del (p.Leu43_Ser50del) rs1554933847
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu) rs794727629
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu) rs281860669
NM_000543.5(SMPD1):c.130_147dup (p.38_39AL[9]) rs1554933850
NM_000543.5(SMPD1):c.1320TTA[1] (p.Tyr442del)
NM_000543.5(SMPD1):c.1328G>A (p.Arg443Gln)
NM_000543.5(SMPD1):c.1328G>C (p.Arg443Pro) rs377609894
NM_000543.5(SMPD1):c.1328G>T (p.Arg443Leu) rs377609894
NM_000543.5(SMPD1):c.1333G>A (p.Val445Ile)
NM_000543.5(SMPD1):c.1345G>C (p.Glu449Gln) rs374018137
NM_000543.5(SMPD1):c.1354C>G (p.Leu452Val) rs2134021009
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) rs794727705
NM_000543.5(SMPD1):c.1390G>T (p.Glu464Ter)
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.1410T>A (p.Asp470Glu)
NM_000543.5(SMPD1):c.1437T>C (p.Ala479=) rs745587850
NM_000543.5(SMPD1):c.145_150del (p.Leu49_Ser50del) rs1382534368
NM_000543.5(SMPD1):c.1468T>A (p.Tyr490Asn) rs398123477
NM_000543.5(SMPD1):c.1471A>C (p.Ile491Leu) rs1429766647
NM_000543.5(SMPD1):c.1471A>G (p.Ile491Val) rs1429766647
NM_000543.5(SMPD1):c.1474G>C (p.Gly492Arg)
NM_000543.5(SMPD1):c.1486+5G>C
NM_000543.5(SMPD1):c.1486+6_1486+9del rs1389809925
NM_000543.5(SMPD1):c.148T>C (p.Ser50Pro) rs781675416
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) rs754979734
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.1558A>C (p.Ile520Leu)
NM_000543.5(SMPD1):c.1566T>G (p.Asn522Lys) rs1554935517
NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly) rs2134023371
NM_000543.5(SMPD1):c.1595T>C (p.Ile532Thr)
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=) rs886048447
NM_000543.5(SMPD1):c.1617C>T (p.Tyr539=) rs1181161932
NM_000543.5(SMPD1):c.164T>A (p.Leu55His)
NM_000543.5(SMPD1):c.1660G>C (p.Ala554Pro) rs758811926
NM_000543.5(SMPD1):c.1666C>T (p.His556Tyr)
NM_000543.5(SMPD1):c.1675G>C (p.Val559Leu) rs149939736
NM_000543.5(SMPD1):c.1688G>A (p.Arg563Gln)
NM_000543.5(SMPD1):c.1693G>A (p.Asp565Asn)
NM_000543.5(SMPD1):c.1709A>C (p.Gln570Pro) rs750665692
NM_000543.5(SMPD1):c.1715_1717del (p.Phe572del)
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.1720T>G (p.Phe574Val)
NM_000543.5(SMPD1):c.1729C>T (p.His577Tyr)
NM_000543.5(SMPD1):c.1763C>A (p.Thr588Lys)
NM_000543.5(SMPD1):c.1793A>G (p.Gln598Arg) rs1554935731
NM_000543.5(SMPD1):c.1795C>A (p.Leu599Ile)
NM_000543.5(SMPD1):c.1795C>T (p.Leu599Phe) rs138531908
NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn) rs2134024509
NM_000543.5(SMPD1):c.1821T>A (p.Ala607=) rs1564928040
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
NM_000543.5(SMPD1):c.1829G>T (p.Arg610Leu) rs140269316
NM_000543.5(SMPD1):c.1838T>C (p.Met613Thr)
NM_000543.5(SMPD1):c.1840C>T (p.Pro614Ser)
NM_000543.5(SMPD1):c.1844A>G (p.Asp615Gly) rs886043825
NM_000543.5(SMPD1):c.1856del (p.Pro619fs)
NM_000543.5(SMPD1):c.1881G>T (p.Arg627Ser)
NM_000543.5(SMPD1):c.215G>T (p.Arg72Met)
NM_000543.5(SMPD1):c.221A>C (p.His74Pro) rs1564922040
NM_000543.5(SMPD1):c.255G>A (p.Gly85=) rs1554933929
NM_000543.5(SMPD1):c.273C>G (p.Cys91Trp) rs1847877445
NM_000543.5(SMPD1):c.277A>G (p.Ile93Val) rs913533196
NM_000543.5(SMPD1):c.299C>A (p.Ala100Asp) rs2134006790
NM_000543.5(SMPD1):c.299C>T (p.Ala100Val)
NM_000543.5(SMPD1):c.318+7A>G rs747913628
NM_000543.5(SMPD1):c.322G>C (p.Glu108Gln)
NM_000543.5(SMPD1):c.338G>T (p.Arg113Leu)
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.380T>C (p.Ile127Thr) rs1847903513
NM_000543.5(SMPD1):c.394G>A (p.Val132Met) rs189859589
NM_000543.5(SMPD1):c.427G>T (p.Asp143Tyr) rs1564922967
NM_000543.5(SMPD1):c.439G>A (p.Val147Met) rs936971458
NM_000543.5(SMPD1):c.449G>A (p.Arg150His)
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.497C>T (p.Thr166Ile) rs1275053638
NM_000543.5(SMPD1):c.505C>A (p.His169Asn)
NM_000543.5(SMPD1):c.536C>T (p.Ser179Phe) rs1215635747
NM_000543.5(SMPD1):c.541C>A (p.Pro181Thr)
NM_000543.5(SMPD1):c.544A>G (p.Thr182Ala)
NM_000543.5(SMPD1):c.559C>A (p.Pro187Thr) rs74053349
NM_000543.5(SMPD1):c.567A>G (p.Lys189=) rs750187574
NM_000543.5(SMPD1):c.569C>T (p.Pro190Leu)
NM_000543.5(SMPD1):c.574A>C (p.Ser192Arg) rs1554934265
NM_000543.5(SMPD1):c.580C>T (p.Pro194Ser)
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.610C>T (p.Leu204Phe) rs1690892137
NM_000543.5(SMPD1):c.627G>A (p.Leu209=) rs200443318
NM_000543.5(SMPD1):c.657_659dup (p.Thr219_Asp220insGlu) rs886042425
NM_000543.5(SMPD1):c.661C>A (p.Pro221Thr) rs2134010893
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.682T>G (p.Cys228Gly) rs1564923612
NM_000543.5(SMPD1):c.686G>T (p.Cys229Phe) rs1554934342
NM_000543.5(SMPD1):c.691C>T (p.Arg231Trp)
NM_000543.5(SMPD1):c.695G>C (p.Gly232Ala) rs1366957686
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.734A>C (p.Tyr245Ser) rs1847928024
NM_000543.5(SMPD1):c.767T>C (p.Leu256Pro)
NM_000543.5(SMPD1):c.772A>C (p.Thr258Pro) rs794727251
NM_000543.5(SMPD1):c.796C>G (p.Leu266Val)
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu) rs1172255199
NM_000543.5(SMPD1):c.826T>C (p.Tyr276His) rs1554934427
NM_000543.5(SMPD1):c.833C>T (p.Thr278Ile)
NM_000543.5(SMPD1):c.836G>A (p.Gly279Glu) rs727504168
NM_000543.5(SMPD1):c.858C>A (p.Val286=) rs1194457629
NM_000543.5(SMPD1):c.861G>C (p.Trp287Cys) rs1319381364
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.879C>T (p.Asp293=) rs886048445
NM_000543.5(SMPD1):c.890C>T (p.Ala297Val)
NM_000543.5(SMPD1):c.894_902del (p.Thr300_Thr302del) rs1554934457
NM_000543.5(SMPD1):c.895ACC[3] (p.Thr300dup) rs1554934463
NM_000543.5(SMPD1):c.934G>A (p.Val312Met) rs941413871
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.973_974insTGT (p.Pro325delinsLeuSer) rs398123480
NM_000543.5(SMPD1):c.988C>G (p.Pro330Ala) rs1564924380
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954

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