ClinVar Miner

List of variants in gene MCCC1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 38
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HGVS dbSNP
NM_001363880.1(MCCC1):c.-291C>T rs886058210
NM_001363880.1(MCCC1):c.-292C>A rs543130921
NM_001363880.1(MCCC1):c.-322C>T rs529095789
NM_020166.5(MCCC1):c.*1A>T rs115605600
NM_020166.5(MCCC1):c.*45A>T rs186406584
NM_020166.5(MCCC1):c.*6A>C
NM_020166.5(MCCC1):c.*90G>A
NM_020166.5(MCCC1):c.-23C>T rs374636986
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser)
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.197G>A (p.Arg66His)
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.5(MCCC1):c.639+13A>G rs140342772
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)

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