ClinVar Miner

List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase 2 deficiency

Included ClinVar conditions (1):
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Total variants: 22
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HGVS dbSNP
NC_000005.10:g.(?_71587406)_(71656880_?)del
NC_000005.10:g.(?_71626620)_(71649273_?)del
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.1309A>G (p.Ile437Val) rs119103224
NM_022132.5(MCCC2):c.1574+1G>A rs730880265
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)
NM_022132.5(MCCC2):c.569A>G (p.His190Arg) rs119103225
NM_022132.5(MCCC2):c.581del (p.Thr194fs) rs1190325113
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) rs766753795
NM_022132.5(MCCC2):c.735dup (p.Val247fs) rs770769655
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) rs119103223
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs) rs1580319814
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) rs1554137532

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