ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase 1 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_020166.5(MCCC1):c.-24A>G rs11540930 0.00749
NM_020166.5(MCCC1):c.-25C>A rs149741951 0.00453
NM_020166.5(MCCC1):c.*1A>T rs115605600 0.00230
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00132
NM_020166.5(MCCC1):c.*6A>C rs199827064 0.00112
NM_020166.5(MCCC1):c.*45A>T rs186406584 0.00081
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_020166.5(MCCC1):c.-23C>T rs374636986 0.00051
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser) rs201216516 0.00049
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204 0.00049
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122 0.00011
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met) rs150943644 0.00004
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr) rs768011454 0.00003
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635 0.00003
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 0.00002
NM_020166.5(MCCC1):c.*90G>A rs894828851 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 0.00001
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.197G>A (p.Arg66His) rs569042803
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851

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