ClinVar Miner

List of variants studied for classic organic aciduria by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (39):
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Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NC_000019.10:g.39480831G>A rs1600735654
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_001243279.3(ACSF3):c.823-26T>C rs9921293
NM_001243279.3(ACSF3):c.823-6T>C rs76096111
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888
NM_015506.3(MMACHC):c.276+214dup rs3215980
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553

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