ClinVar Miner

List of variants reported as benign for classic organic aciduria by Natera, Inc.

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.550+57A>G rs4924466 0.96250
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526 0.71888
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_002225.5(IVD):c.234+14T>C rs2289331 0.62561
NM_002225.5(IVD):c.1065+41A>G rs11070270 0.60848
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_002225.5(IVD):c.688-31T>C rs2289329 0.35913
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775 0.31347
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056 0.27945
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.26111
NM_002225.5(IVD):c.*261G>A rs2075624 0.23369
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312 0.11757
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553 0.07844
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655 0.04892
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414 0.04206
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_002225.5(IVD):c.*195C>T rs77680513 0.02693
NM_002225.5(IVD):c.1066-5C>T rs115077254 0.02192
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507 0.02015
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356 0.01499
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224 0.01204
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_002225.5(IVD):c.235-18G>A rs78272986 0.01081
NM_002225.5(IVD):c.-48G>A rs114259808 0.01080
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759 0.01068
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907 0.01062
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264 0.00941
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336 0.00901
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029 0.00878
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501 0.00850
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440 0.00769
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911 0.00722
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_000282.4(PCCA):c.1846-9G>T rs141118743 0.00627
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773 0.00533
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839 0.00480
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712 0.00445
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284 0.00391
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190 0.00390
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) rs138395741 0.00346
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354 0.00232
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921 0.00231
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120 0.00219
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097 0.00191
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744 0.00177
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922 0.00135
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962 0.00104
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039 0.00101
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_022132.5(MCCC2):c.511+7dup rs200382661 0.00068
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229 0.00032
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983 0.00028
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565 0.00026
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782 0.00019
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212 0.00019
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00014
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707 0.00005
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577 0.00003
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_001352514.2(HLCS):c.*7_*9del rs201681436
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015702.3(MMADHC):c.846T>C (p.Asn282=) rs559044965
NM_052845.4(MMAB):c.-9G>T rs554831769

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