ClinVar Miner

List of variants in gene SMPD1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
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.689G>A (p.Arg230His) rs141387770 0.00071
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.733T>C (p.Tyr245His) rs370178721 0.00009
NM_000543.5(SMPD1):c.1135C>T (p.Leu379Phe) rs371738717 0.00008
NM_000543.5(SMPD1):c.448C>T (p.Arg150Cys) rs143719170 0.00007
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
NM_000543.5(SMPD1):c.1772G>A (p.Arg591His) rs189116118 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.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.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.558G>A (p.Pro186=) rs1464825418 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 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.1386G>A (p.Val462=) rs763521056 0.00002
NM_000543.5(SMPD1):c.138G>T (p.Ala46=) rs200763765 0.00002
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110 0.00002
NM_000543.5(SMPD1):c.529A>T (p.Asn177Tyr) rs535997620 0.00002
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.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1620G>A (p.Arg540=) rs778746534 0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=) rs369787650 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.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.753G>A (p.Lys251=) rs374458858 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.*5C>G rs761741269
NM_000543.5(SMPD1):c.*8G>A rs769660920
NM_000543.5(SMPD1):c.1044C>T (p.Ala348=) rs555187617
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.1191C>T (p.Asn397=) rs766418804
NM_000543.5(SMPD1):c.1195A>G (p.Thr399Ala) rs886042824
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu) rs794727629
NM_000543.5(SMPD1):c.1345G>C (p.Glu449Gln) rs374018137
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) rs794727705
NM_000543.5(SMPD1):c.1437T>C (p.Ala479=) rs745587850
NM_000543.5(SMPD1):c.1468T>A (p.Tyr490Asn) rs398123477
NM_000543.5(SMPD1):c.148T>C (p.Ser50Pro) rs781675416
NM_000543.5(SMPD1):c.1566T>G (p.Asn522Lys) rs1554935517
NM_000543.5(SMPD1):c.1617C>T (p.Tyr539=) rs1181161932
NM_000543.5(SMPD1):c.1821T>A (p.Ala607=) rs1564928040
NM_000543.5(SMPD1):c.1844A>G (p.Asp615Gly) rs886043825
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.427G>T (p.Asp143Tyr) rs1564922967
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.574A>C (p.Ser192Arg) rs1554934265
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.772A>C (p.Thr258Pro) rs794727251
NM_000543.5(SMPD1):c.826T>C (p.Tyr276His) rs1554934427
NM_000543.5(SMPD1):c.836G>A (p.Gly279Glu) rs727504168
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.934G>A (p.Val312Met) rs941413871
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.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954

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