ClinVar Miner

List of variants reported as benign for 3-methylcrotonyl-CoA carboxylase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
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_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907 0.01062
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839 0.00480
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712 0.00445
NM_022132.5(MCCC2):c.282-7G>A rs115078899 0.00399
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062 0.00228
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00132
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534 0.00121
NM_022132.5(MCCC2):c.511+7dup rs200382661 0.00068
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707 0.00048
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926 0.00041
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318 0.00008
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577 0.00003
NM_022132.5(MCCC2):c.1373+18C>T rs200716557 0.00002
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_020166.5(MCCC1):c.1083+15dup rs377092260
NM_020166.5(MCCC1):c.1268-19C>T
NM_020166.5(MCCC1):c.1378-17del
NM_020166.5(MCCC1):c.1682-17dup
NM_020166.5(MCCC1):c.1732-13del rs770181345
NM_020166.5(MCCC1):c.1732-4dup
NM_020166.5(MCCC1):c.874-6del rs755494348
NM_020166.5(MCCC1):c.874-6dup rs755494348
NM_020166.5(MCCC1):c.956-10dup rs747546545
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly) rs371587906
NM_022132.5(MCCC2):c.1574+7dup
NM_022132.5(MCCC2):c.1575-15_1575-14del

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