ClinVar Miner

List of variants in gene MCCC2 studied for Methylcrotonyl-CoA carboxylase deficiency

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Total variants: 42
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HGVS dbSNP
NM_022132.5(MCCC2):c.*6A>G
NM_022132.5(MCCC2):c.*719del rs886060742
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) rs371374378
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
NM_022132.5(MCCC2):c.1374-10C>T rs766032118
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp)
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp)
NM_022132.5(MCCC2):c.1488+10del
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) rs767326357
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577
NM_022132.5(MCCC2):c.1574+5G>T
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=)
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn)
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792
NM_022132.5(MCCC2):c.196+3A>G
NM_022132.5(MCCC2):c.258A>G (p.Arg86=)
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile)
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=)
NM_022132.5(MCCC2):c.511+7dup rs200382661
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr)
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670

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