ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Baylor Genetics

Included ClinVar conditions (39):
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ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn)
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val)
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val)
NM_000255.4(MMUT):c.235A>G (p.Met79Val)
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)
NM_001001563.5(TIMM50):c.854-8G>C
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406
NM_001081.3(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422
NM_001081.3(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.3(CUBN):c.8701G>A (p.Val2901Ile) rs201093611
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser)
NM_001698.2(AUH):c.791G>A (p.Gly264Glu) rs376821113
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro)
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.529G>C (p.Asp177His)
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)
NM_014384.2(ACAD8):c.2T>C (p.Met1Thr) rs767041100
NM_014384.2(ACAD8):c.466G>T (p.Ala156Ser) rs201273972
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420
NM_014384.3(ACAD8):c.763G>A (p.Val255Met)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys)
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn)
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp)
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
NM_032861.4(SERAC1):c.1828+3A>G
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu)
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)

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