ClinVar Miner

List of variants studied for classic organic aciduria by Nilou-Genome Lab

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235
NM_001352514.2(HLCS):c.*40A>G rs77014096
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1438-36G>A rs2073425
NM_001352514.2(HLCS):c.1893-46G>T rs2073421
NM_001352514.2(HLCS):c.1960+117A>T
NM_001352514.2(HLCS):c.2122-30G>A rs2073420
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_025136.3(OPA3):c.-75G>A rs45598532
NM_025136.4(OPA3):c.-38A>G rs45527139
NM_025136.4(OPA3):c.142+69G>C
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679

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