ClinVar Miner

List of variants in gene IVD studied for classic organic aciduria

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP
NC_000015.9:g.(?_40705170)_(40710482_?)del
NM_002225.3(IVD):c.-237G>C rs749128466
NM_002225.3(IVD):c.-315C>G rs886051126
NM_002225.3(IVD):c.-39G>A rs114259808
NM_002225.3(IVD):c.-79C>G rs574064968
NM_002225.3(IVD):c.1019G>A (p.Arg340Gln) rs139908696
NM_002225.3(IVD):c.1188delT (p.Leu397Phefs) rs786204613
NM_002225.3(IVD):c.157C>T (p.Arg53Cys) rs34695403
NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002225.3(IVD):c.417G>C (p.Gln139His) rs569537063
NM_002225.3(IVD):c.507delG (p.Glu169Aspfs) rs398123684
NM_002225.3(IVD):c.941C>T (p.Ala314Val) rs28940889
NM_002225.4(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.4(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.*1005T>C rs560096869
NM_002225.5(IVD):c.*1117G>A rs886051132
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*123G>A rs536728525
NM_002225.5(IVD):c.*1471G>A rs4923865
NM_002225.5(IVD):c.*14C>T rs8040294
NM_002225.5(IVD):c.*1577C>G rs11630850
NM_002225.5(IVD):c.*1610C>T rs11630878
NM_002225.5(IVD):c.*1890G>C rs12185076
NM_002225.5(IVD):c.*1893del rs398026948
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*195C>T rs77680513
NM_002225.5(IVD):c.*2005G>A rs886051135
NM_002225.5(IVD):c.*204T>G rs886051127
NM_002225.5(IVD):c.*2070C>T rs187887699
NM_002225.5(IVD):c.*2275T>C rs11790
NM_002225.5(IVD):c.*2285C>G rs114657778
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2559G>A rs532233403
NM_002225.5(IVD):c.*261G>A rs2075624
NM_002225.5(IVD):c.*2630G>A rs28654574
NM_002225.5(IVD):c.*2844T>C rs7207
NM_002225.5(IVD):c.*2850A>G rs147367220
NM_002225.5(IVD):c.*290dup rs529793013
NM_002225.5(IVD):c.*2912G>A rs11557072
NM_002225.5(IVD):c.*3036del rs5812161
NM_002225.5(IVD):c.*338G>A rs879231133
NM_002225.5(IVD):c.*387del rs145781896
NM_002225.5(IVD):c.*447C>G rs79191320
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*596G>A rs115034694
NM_002225.5(IVD):c.*611T>G rs886051130
NM_002225.5(IVD):c.*808C>G rs2075625
NM_002225.5(IVD):c.*809G>A rs886051131
NM_002225.5(IVD):c.-8T>C rs566691073
NM_002225.5(IVD):c.-8T>G rs566691073
NM_002225.5(IVD):c.-9A>T rs373594717
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1066-5C>T rs115077254
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1139-3C>G rs367891946
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs) rs1555405428
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.157_160dup (p.Ala54fs) rs1555403211
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.234+14T>C rs2289331
NM_002225.5(IVD):c.234+17G>A rs568900608
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
NM_002225.5(IVD):c.272G>A (p.Gly91Asp) rs1555403365
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950
NM_002225.5(IVD):c.44G>A (p.Trp15Ter) rs907414760
NM_002225.5(IVD):c.456+22_510delinsGTTG rs1555403942
NM_002225.5(IVD):c.456+2T>C rs398123683
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461
NM_002225.5(IVD):c.516_518TGT[1] (p.Val174del) rs1566936030
NM_002225.5(IVD):c.550+1G>A rs377147994
NM_002225.5(IVD):c.551-1G>A rs1057517043
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563
NM_002225.5(IVD):c.711dup (p.Lys238Ter) rs1555404426
NM_002225.5(IVD):c.712_714AAG[1] (p.Lys239del) rs1555404430
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312
NM_002225.5(IVD):c.744dup (p.Asn249Ter) rs1057516769
NM_002225.5(IVD):c.784+13G>A rs369694967
NM_002225.5(IVD):c.784+1G>A rs763471771
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.875T>C (p.Leu292Pro) rs1555404843
NM_002225.5(IVD):c.878+1G>A rs745629936
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.881T>C (p.Leu294Pro) rs1555404933
NM_002225.5(IVD):c.883A>T (p.Met295Leu)
NM_002225.5(IVD):c.887A>T (p.Gln296Leu)
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_002225.5(IVD):c.961-1G>T rs1555405067
NM_002225.5(IVD):c.961-2A>G rs1057517056
NM_002225.5(IVD):c.974del (p.Lys325fs) rs1555405070
NM_002225.5(IVD):c.994del (p.Arg332fs) rs1555405080

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