ClinVar Miner

List of variants in gene MCCC2 studied for not specified

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_022132.5(MCCC2):c.738+36G>A rs12516456 0.80304
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_022132.5(MCCC2):c.999+39T>G rs6891649 0.03059
NM_022132.5(MCCC2):c.739-25C>T rs6861176 0.01639
NM_022132.5(MCCC2):c.1574+37C>G rs138725621 0.01241
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907 0.01062
NM_022132.5(MCCC2):c.-38G>A rs186132078 0.00403
NM_022132.5(MCCC2):c.282-7G>A rs115078899 0.00399
NM_022132.5(MCCC2):c.1373+27A>G rs116092799 0.00281
NM_022132.5(MCCC2):c.-20C>G rs369716018 0.00273
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062 0.00228
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_022132.5(MCCC2):c.511+7dup rs200382661 0.00068
NM_022132.5(MCCC2):c.1488+10G>A rs190514867 0.00007
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=) rs779855532 0.00006
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu) rs1257849672 0.00004
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792 0.00004
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=) rs1266022580 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133 0.00003
NM_022132.5(MCCC2):c.1373+18C>T rs200716557 0.00002
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg) rs979584886 0.00002
NM_022132.5(MCCC2):c.116C>T (p.Ser39Phe) rs398124371 0.00001
NM_022132.5(MCCC2):c.1374-19C>A rs761903116 0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_022132.5(MCCC2):c.1000-14_1000-12del rs796051988
NM_022132.5(MCCC2):c.1052A>G (p.Tyr351Cys)
NM_022132.5(MCCC2):c.1150-17_1150-16del rs904388490
NM_022132.5(MCCC2):c.1179A>G (p.Gln393=) rs1383864998
NM_022132.5(MCCC2):c.1215T>G (p.Thr405=) rs1057523489
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
NM_022132.5(MCCC2):c.1574+6G>C rs1554138717
NM_022132.5(MCCC2):c.279A>T (p.Pro93=) rs1554133471
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp) rs752866557
NM_022132.5(MCCC2):c.54C>G (p.Ala18=) rs747327321
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) rs757389984

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