ClinVar Miner

List of variants reported as uncertain significance for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Invitae

Included ClinVar conditions (1):
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Total variants: 26
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HGVS dbSNP
NM_022132.4(MCCC2):c.1235A>C (p.Glu412Ala)
NM_022132.4(MCCC2):c.1273A>G (p.Met425Val) rs766591766
NM_022132.4(MCCC2):c.1282G>A (p.Ala428Thr)
NM_022132.4(MCCC2):c.1309A>G (p.Ile437Val) rs119103224
NM_022132.4(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val) rs1554138479
NM_022132.4(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_022132.4(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.4(MCCC2):c.1441G>A (p.Val481Met) rs767575019
NM_022132.4(MCCC2):c.1450A>C (p.Thr484Pro) rs1554138549
NM_022132.4(MCCC2):c.1504G>C (p.Glu502Gln)
NM_022132.4(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.4(MCCC2):c.1635dup (p.Ser546Terfs) rs768272570
NM_022132.4(MCCC2):c.1640C>T (p.Ala547Val) rs778172446
NM_022132.4(MCCC2):c.1690T>C (p.Ter564Gln)
NM_022132.4(MCCC2):c.295G>A (p.Glu99Lys) rs119103219
NM_022132.4(MCCC2):c.436T>G (p.Tyr146Asp) rs1402663229
NM_022132.4(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
NM_022132.4(MCCC2):c.478G>A (p.Ala160Thr) rs727504009
NM_022132.4(MCCC2):c.539G>A (p.Arg180Gln)
NM_022132.4(MCCC2):c.568C>T (p.His190Tyr) rs773774134
NM_022132.4(MCCC2):c.653C>T (p.Ala218Val)
NM_022132.4(MCCC2):c.665A>G (p.Tyr222Cys) rs753735697
NM_022132.4(MCCC2):c.709G>C (p.Gly237Arg) rs781559418
NM_022132.4(MCCC2):c.995G>A (p.Arg332Gln) rs144203670
NM_022132.4(MCCC2):c.999G>T (p.Glu333Asp)

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