ClinVar Miner

List of variants reported as benign for 3-methylcrotonyl-CoA carboxylase deficiency by Pars Genome Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.1978-57G>T rs6786878 0.93354
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_022132.5(MCCC2):c.738+36G>A rs12516456 0.80304
NM_022132.5(MCCC2):c.1575-64A>G rs7443786 0.69711
NM_020166.4(MCCC1):c.-100G>C rs937652 0.60097
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_020166.5(MCCC1):c.369+96C>T rs6806083 0.54587
NM_022132.5(MCCC2):c.803+71C>T rs277981 0.41735
NM_022132.5(MCCC2):c.739-92G>A rs277980 0.41731
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_020166.5(MCCC1):c.1594+39T>C rs2270969 0.06776
NM_020166.5(MCCC1):c.1681+77C>T rs75187429 0.06739
NM_020166.5(MCCC1):c.1732-208T>C rs2108441955
NM_020166.5(MCCC1):c.1978-86A>C rs2292056
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_022132.5(MCCC2):c.-117A>G rs11746722
NM_022132.5(MCCC2):c.1488+103G>C rs169406
NM_022132.5(MCCC2):c.1488+113G>A rs182191
NM_022132.5(MCCC2):c.1489-111T>G rs6888301
NM_022132.5(MCCC2):c.1574+73G>A rs2242372

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