ClinVar Miner

List of variants in gene HLCS reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP
NM_000411.8(HLCS):c.*1084C>T rs530869762
NM_000411.8(HLCS):c.*1089G>A rs146991267
NM_000411.8(HLCS):c.*1097G>A rs886057070
NM_000411.8(HLCS):c.*1273T>A rs565500474
NM_000411.8(HLCS):c.*1324T>C rs141644229
NM_000411.8(HLCS):c.*1581T>C rs886057069
NM_000411.8(HLCS):c.*1594A>G rs776064678
NM_000411.8(HLCS):c.*1614dup rs886057068
NM_000411.8(HLCS):c.*1725A>G rs73398120
NM_000411.8(HLCS):c.*1744G>A rs117270429
NM_000411.8(HLCS):c.*1756C>T rs748180401
NM_000411.8(HLCS):c.*1761_*1762del rs886057067
NM_000411.8(HLCS):c.*1827C>A rs768653798
NM_000411.8(HLCS):c.*1852G>T rs551457805
NM_000411.8(HLCS):c.*1856T>C rs151042283
NM_000411.8(HLCS):c.*1997G>A rs886057066
NM_000411.8(HLCS):c.*2023G>A rs886057065
NM_000411.8(HLCS):c.*2163A>G rs139776215
NM_000411.8(HLCS):c.*2243C>T rs554230015
NM_000411.8(HLCS):c.*2267G>T rs886057064
NM_000411.8(HLCS):c.*2285G>A rs886057063
NM_000411.8(HLCS):c.*2434G>T rs886057062
NM_000411.8(HLCS):c.*2541C>T rs184935954
NM_000411.8(HLCS):c.*2545C>A rs180866987
NM_000411.8(HLCS):c.*2624G>A rs73210780
NM_000411.8(HLCS):c.*270dup rs886057074
NM_000411.8(HLCS):c.*2814C>T rs146199781
NM_000411.8(HLCS):c.*2945C>T rs71332549
NM_000411.8(HLCS):c.*2952_*2953CT[1] rs886057061
NM_000411.8(HLCS):c.*3159_*3162del rs535525635
NM_000411.8(HLCS):c.*3161G>T rs886057060
NM_000411.8(HLCS):c.*3209C>T rs886057059
NM_000411.8(HLCS):c.*3226del rs35955622
NM_000411.8(HLCS):c.*3226dup rs35955622
NM_000411.8(HLCS):c.*3247A>G rs114061673
NM_000411.8(HLCS):c.*334A>G rs886057073
NM_000411.8(HLCS):c.*490C>T rs376741921
NM_000411.8(HLCS):c.*590A>G rs148195019
NM_000411.8(HLCS):c.*779A>T rs886057072
NM_000411.8(HLCS):c.*985C>A rs886057071
NM_000411.8(HLCS):c.-173C>T rs541806392
NM_000411.8(HLCS):c.-208G>A rs77067023
NM_000411.8(HLCS):c.-254C>T rs149104163
NM_000411.8(HLCS):c.-257-10T>A rs181989786
NM_000411.8(HLCS):c.-294A>C rs751729789
NM_000411.8(HLCS):c.-373A>T rs191115811
NM_000411.8(HLCS):c.-382A>G rs886057080
NM_000411.8(HLCS):c.-393+7C>T rs886057081
NM_000411.8(HLCS):c.1109C>T (p.Thr370Ile) rs575286749
NM_000411.8(HLCS):c.1180-12T>C rs367728041
NM_000411.8(HLCS):c.1254C>T (p.Leu418=) rs138209330
NM_000411.8(HLCS):c.1367A>G (p.Tyr456Cys) rs781603756
NM_000411.8(HLCS):c.1409T>C (p.Leu470Ser) rs1261821166
NM_000411.8(HLCS):c.1416C>A (p.Ala472=) rs759178651
NM_000411.8(HLCS):c.1477A>G (p.Met493Val)
NM_000411.8(HLCS):c.1502G>A (p.Arg501Gln) rs886057076
NM_000411.8(HLCS):c.1513G>C (p.Gly505Arg) rs1555885056
NM_000411.8(HLCS):c.1533dup (p.Val512fs) rs767533946
NM_000411.8(HLCS):c.1536G>A (p.Val512=) rs886057075
NM_000411.8(HLCS):c.1680+1G>A rs1175936807
NM_000411.8(HLCS):c.1694G>A (p.Arg565Gln) rs769446135
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_000411.8(HLCS):c.1810G>A (p.Val604Met) rs1555882115
NM_000411.8(HLCS):c.1826C>G (p.Pro609Arg)
NM_000411.8(HLCS):c.1827_1829del (p.Thr610del) rs1555882090
NM_000411.8(HLCS):c.1900G>A (p.Asp634Asn) rs149399432
NM_000411.8(HLCS):c.1911C>T (p.Ile637=) rs150263699
NM_000411.8(HLCS):c.1975G>A (p.Val659Ile) rs368124997
NM_000411.8(HLCS):c.1977C>T (p.Val659=) rs759416272
NM_000411.8(HLCS):c.1991A>G (p.Tyr664Cys) rs776535574
NM_000411.8(HLCS):c.1A>C (p.Met1Leu) rs764841449
NM_000411.8(HLCS):c.1A>G (p.Met1Val) rs764841449
NM_000411.8(HLCS):c.2010-1G>A rs1158898827
NM_000411.8(HLCS):c.2059G>A (p.Val687Ile) rs145648338
NM_000411.8(HLCS):c.2060_2062dup (p.Val687dup) rs773191073
NM_000411.8(HLCS):c.2078G>C (p.Gly693Ala) rs764148793
NM_000411.8(HLCS):c.2126del (p.Pro709fs) rs1555880930
NM_000411.8(HLCS):c.2146_2147del (p.Met716fs) rs1555880894
NM_000411.8(HLCS):c.2170_2173del (p.Lys724fs) rs774356408
NM_000411.8(HLCS):c.2174G>A (p.Arg725Gln) rs147474255
NM_000411.8(HLCS):c.282C>A (p.Gly94=) rs886057077
NM_000411.8(HLCS):c.399C>T (p.Tyr133=) rs779907293
NM_000411.8(HLCS):c.400G>A (p.Asp134Asn) rs148426470
NM_000411.8(HLCS):c.424G>A (p.Val142Ile) rs149291867
NM_000411.8(HLCS):c.477A>G (p.Gly159=) rs767988985
NM_000411.8(HLCS):c.48T>G (p.Ile16Met) rs886057079
NM_000411.8(HLCS):c.500A>C (p.Tyr167Ser) rs778638155
NM_000411.8(HLCS):c.52+9C>A rs886057078
NM_000411.8(HLCS):c.53-25TC[4] rs146532042
NM_000411.8(HLCS):c.53-9A>G rs376397597
NM_000411.8(HLCS):c.59A>G (p.His20Arg) rs577182758
NM_000411.8(HLCS):c.632C>T (p.Thr211Met) rs142524025
NM_000411.8(HLCS):c.652G>T (p.Val218Phe) rs1569216588
NM_000411.8(HLCS):c.710T>G (p.Leu237Arg)
NM_000411.8(HLCS):c.850G>A (p.Val284Ile) rs376903098
NM_000411.8(HLCS):c.887T>G (p.Val296Gly)
NM_000411.8(HLCS):c.890G>A (p.Arg297Gln) rs146030669

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