ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) rs148943423
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) rs202074025
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) rs765198174
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) rs200877859
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001370658.1(BTD):c.1188C>T (p.His396=)
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) rs143753228
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) rs768988562
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378
NM_172250.3(MMAA):c.879A>G (p.Gly293=) rs146352309

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