ClinVar Miner

List of variants in gene CDT1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727 0.49695
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275 0.47081
NM_030928.4(CDT1):c.549A>G (p.Gly183=) rs1834065 0.13858
NM_030928.4(CDT1):c.243T>C (p.Ser81=) rs475667 0.11192
NM_030928.4(CDT1):c.1500G>T (p.Leu500=) rs3218720 0.03976
NM_030928.4(CDT1):c.1179G>C (p.Gly393=) rs74035837 0.01762
NM_030928.4(CDT1):c.1221G>A (p.Pro407=) rs74035838 0.00376
NM_030928.4(CDT1):c.613G>A (p.Gly205Ser) rs145552478 0.00292
NM_030928.4(CDT1):c.1629G>A (p.Glu543=) rs141644149 0.00066
NM_030928.4(CDT1):c.229-7C>G rs371658696 0.00030
NM_030928.4(CDT1):c.855G>A (p.Gln285=) rs142859474 0.00030
NM_030928.4(CDT1):c.738C>T (p.Ser246=) rs200892812 0.00002
NM_030928.4(CDT1):c.1377C>T (p.Arg459=) rs3218730

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