ClinVar Miner

List of variants reported as likely benign for classic organic aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 149
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HGVS dbSNP
NM_000019.3(ACAT1):c.*258G>A rs79764488
NM_000019.3(ACAT1):c.*753C>T rs186239800
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
NM_000191.2(HMGCL):c.-59A>C rs188188846
NM_000191.3(HMGCL):c.*194C>G rs192071003
NM_000191.3(HMGCL):c.*289G>T rs369514739
NM_000255.4(MMUT):c.*101G>A rs113025987
NM_000255.4(MMUT):c.*34A>G
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898
NM_000282.4(PCCA):c.*115C>T rs41281122
NM_000282.4(PCCA):c.*158dup rs140492017
NM_000282.4(PCCA):c.*159T>G rs113356477
NM_000282.4(PCCA):c.*57_*60del rs200007489
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000532.5(PCCB):c.1299+9C>A rs60968242
NM_001008216.2(GALE):c.-77+311C>T rs113324056
NM_001081.3(CUBN):c.*266C>T rs374059721
NM_001081.3(CUBN):c.*330G>C rs181630914
NM_001081.3(CUBN):c.*420C>T rs182278265
NM_001081.3(CUBN):c.10267G>A (p.Val3423Ile) rs145872906
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266
NM_001081.3(CUBN):c.1530+12A>C rs138936163
NM_001081.3(CUBN):c.1681G>A (p.Asp561Asn) rs147449194
NM_001081.3(CUBN):c.1794C>T (p.Tyr598=) rs140184467
NM_001081.3(CUBN):c.1811C>T (p.Pro604Leu) rs200537125
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.2016G>A (p.Pro672=) rs148107237
NM_001081.3(CUBN):c.2138C>T (p.Thr713Met) rs141420691
NM_001081.3(CUBN):c.2182T>C (p.Phe728Leu) rs147752521
NM_001081.3(CUBN):c.2656G>A (p.Glu886Lys) rs138545198
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2922C>T (p.Phe974=) rs201802902
NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) rs141640975
NM_001081.3(CUBN):c.5680A>G (p.Ile1894Val) rs76789390
NM_001081.3(CUBN):c.5926+5G>A rs143301088
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.3(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556
NM_001081.3(CUBN):c.8968G>A (p.Val2990Ile) rs115888073
NM_001081.3(CUBN):c.9565A>G (p.Ile3189Val) rs111265129
NM_001081.4(CUBN):c.*330G>A
NM_001081.4(CUBN):c.*380T>C
NM_001081.4(CUBN):c.*769G>A
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu)
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908
NM_001178014.1(PCCB):c.-37C>T rs145734157
NM_001352514.2(HLCS):c.*1324T>C rs141644229
NM_001352514.2(HLCS):c.*1589_*1592CAAA[2] rs201997019
NM_001352514.2(HLCS):c.*1725A>G rs73398120
NM_001352514.2(HLCS):c.*1744G>A rs117270429
NM_001352514.2(HLCS):c.*19C>T rs137949852
NM_001352514.2(HLCS):c.*2624G>A rs73210780
NM_001352514.2(HLCS):c.*3247A>G rs114061673
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774
NM_001352514.2(HLCS):c.331-7157C>T rs149104163
NM_001370658.1(BTD):c.-94C>T rs114567021
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001609.3(ACADSB):c.*1445A>T rs182952282
NM_001609.3(ACADSB):c.*1826C>T rs568834686
NM_001609.3(ACADSB):c.*1920G>T rs141894735
NM_001609.3(ACADSB):c.*2227A>G rs149926796
NM_001609.3(ACADSB):c.*30G>A rs141805585
NM_001609.3(ACADSB):c.*3130A>G rs41291348
NM_001609.3(ACADSB):c.*3907C>G rs185346880
NM_001609.3(ACADSB):c.*78C>T rs117078411
NM_001609.3(ACADSB):c.-102dup rs201117089
NM_001609.3(ACADSB):c.-123G>A rs72839755
NM_001609.4(ACADSB):c.*1326A>G
NM_001609.4(ACADSB):c.*2086G>A
NM_001609.4(ACADSB):c.*2224A>G
NM_001609.4(ACADSB):c.*3517A>G
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362
NM_002225.3(IVD):c.-79C>G rs574064968
NM_002225.5(IVD):c.*1376G>A
NM_002225.5(IVD):c.*2235G>A
NM_002225.5(IVD):c.*2559G>A rs532233403
NM_002225.5(IVD):c.*2850A>G rs147367220
NM_002225.5(IVD):c.*387del rs145781896
NM_002225.5(IVD):c.-48G>A rs114259808
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134
NM_014384.2(ACAD8):c.*494A>G rs148808998
NM_014384.2(ACAD8):c.*652C>G rs139716145
NM_014384.2(ACAD8):c.-67G>A rs112372624
NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) rs113488591
NM_014384.2(ACAD8):c.842-8C>G rs201188279
NM_015702.3(MMADHC):c.-145A>G rs12477482
NM_015702.3(MMADHC):c.-8C>T rs180812156
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_018368.4(LMBRD1):c.-88C>G rs557851763
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169
NM_018368.4(LMBRD1):c.636+14G>T
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834
NM_022132.5(MCCC2):c.*1080G>T rs7727902
NM_022132.5(MCCC2):c.*1351G>A
NM_022132.5(MCCC2):c.*245T>C rs11551918
NM_022132.5(MCCC2):c.*577T>A rs150412501
NM_022132.5(MCCC2):c.*970G>A
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577
NM_025136.4(OPA3):c.*1340C>T rs12104391
NM_025136.4(OPA3):c.*1760C>T rs75401979
NM_025136.4(OPA3):c.*1855T>C rs146599259
NM_025136.4(OPA3):c.*2143_*2144del rs532263532
NM_025136.4(OPA3):c.*2469G>A rs115566341
NM_025136.4(OPA3):c.*2696C>G rs148705681
NM_025136.4(OPA3):c.*3222C>T rs73568980
NM_025136.4(OPA3):c.*3343_*3347TCTTT[2] rs373580645
NM_025136.4(OPA3):c.*362T>C rs73942919
NM_025136.4(OPA3):c.*4794C>T rs114917731
NM_025136.4(OPA3):c.*5905G>A rs116705343
NM_025136.4(OPA3):c.*6104_*6105del rs142661638
NM_025136.4(OPA3):c.*6294A>C rs114655581
NM_025136.4(OPA3):c.*6394G>A rs151030695
NM_025136.4(OPA3):c.*7085A>G rs67373144
NM_025136.4(OPA3):c.-38A>G rs45527139
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732
NM_032601.4(MCEE):c.120T>C (p.Gly40=) rs373053776
NM_032601.4(MCEE):c.41-13T>A
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961
NM_052845.4(MMAB):c.*1409G>A rs72650177
NM_052845.4(MMAB):c.*2186T>C rs147647465
NM_052845.4(MMAB):c.*404T>G rs148289390
NM_172250.3(MMAA):c.*1952T>C rs79927727
NM_172250.3(MMAA):c.*2364A>G rs13129907
NM_172250.3(MMAA):c.*3254A>C rs539831571
NM_172250.3(MMAA):c.*3285G>A rs142885287
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849

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