ClinVar Miner

List of variants in gene CDC6 studied for Meier-Gorlin syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706 0.22496
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199 0.10516
NM_001254.4(CDC6):c.883G>A (p.Asp295Asn) rs4135012 0.01566
NM_001254.4(CDC6):c.896C>T (p.Thr299Met) rs4135013 0.00591
NM_001254.4(CDC6):c.*733A>G rs544343681 0.00317
NM_001254.4(CDC6):c.712A>G (p.Thr238Ala) rs4135010 0.00192
NM_001254.4(CDC6):c.*358G>T rs575274633 0.00181
NM_001254.4(CDC6):c.-36T>G rs527935093 0.00130
NM_001254.4(CDC6):c.165C>T (p.Pro55=) rs142289528 0.00097
NM_001254.4(CDC6):c.*653C>A rs4135033 0.00040
NM_001254.4(CDC6):c.897G>A (p.Thr299=) rs193186571 0.00040
NM_001254.4(CDC6):c.*747G>A rs4135034 0.00035
NM_001254.4(CDC6):c.*181A>G rs141386457 0.00028
NM_001254.4(CDC6):c.799T>C (p.Leu267=) rs200407669 0.00025
NM_001254.4(CDC6):c.*353T>G rs186404954 0.00018
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440 0.00010
NM_001254.4(CDC6):c.*511G>A rs886052905 0.00008
NM_001254.4(CDC6):c.179-14T>C rs182086857 0.00006
NM_001254.4(CDC6):c.1133G>A (p.Arg378His) rs4135016 0.00005
NM_001254.4(CDC6):c.1184+10G>A rs563505524 0.00003
NM_001254.4(CDC6):c.1512A>G (p.Ser504=) rs4135031 0.00003
NM_001254.4(CDC6):c.845T>C (p.Val282Ala) rs779528702 0.00003
NM_001254.4(CDC6):c.1581C>G (p.Thr527=) rs754533557 0.00002
NM_001254.4(CDC6):c.*414C>T rs886052904 0.00001
NM_001254.4(CDC6):c.*84G>A rs938053501 0.00001
NM_001254.4(CDC6):c.1556T>G (p.Leu519Ter) rs372396327 0.00001
NM_001254.4(CDC6):c.1591A>G (p.Lys531Glu) rs746864516 0.00001
NM_001254.4(CDC6):c.894C>T (p.Tyr298=) rs537454091 0.00001
NM_001254.4(CDC6):c.*358GTT[3] rs771752103
NM_001254.4(CDC6):c.*635G>T rs532345721
NM_001254.4(CDC6):c.-14+8G>C rs886052901
NM_001254.4(CDC6):c.1020G>A (p.Leu340=) rs181925915
NM_001254.4(CDC6):c.1084-15A>G rs2032841757
NM_001254.4(CDC6):c.129C>T (p.Thr43=) rs2032718073
NM_001254.4(CDC6):c.134CTC[1] (p.Pro46del) rs776043160
NM_001254.4(CDC6):c.464C>T (p.Thr155Ile) rs771381953
NM_001254.4(CDC6):c.508G>A (p.Asp170Asn) rs1156429588
NM_001254.4(CDC6):c.968C>G (p.Thr323Arg) rs387906842

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