ClinVar Miner

List of variants in gene CDT1 reported as benign for Meier-Gorlin syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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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.248C>T (p.Pro83Leu) rs139038990

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