ClinVar Miner

List of variants in gene CDT1 studied for Meier-Gorlin syndrome 4

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Total variants: 24
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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.613G>A (p.Gly205Ser) rs145552478 0.00292
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala) rs141663679 0.00207
NM_030928.4(CDT1):c.1154G>A (p.Arg385His) rs143840572 0.00019
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp) rs200672589 0.00011
NM_030928.4(CDT1):c.748C>T (p.Arg250Cys) rs199723040 0.00011
NM_030928.4(CDT1):c.999G>A (p.Pro333=) rs202026460 0.00010
NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys) rs200652608 0.00006
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_030928.4(CDT1):c.1125G>A (p.Met375Ile) rs779105998 0.00001
NM_030928.4(CDT1):c.196G>A (p.Ala66Thr) rs387906918 0.00001
NM_030928.4(CDT1):c.1078_1080del (p.Ala360del) rs1567502140
NM_030928.4(CDT1):c.1276-24A>G rs2142945856
NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter) rs147914553
NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu) rs139038990
NM_030928.4(CDT1):c.260A>G (p.Asp87Gly)
NM_030928.4(CDT1):c.351G>C (p.Gln117His) rs779871947
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
NM_030928.4(CDT1):c.802C>T (p.Gln268Ter) rs776483689
NM_030928.4(CDT1):c.832+1G>A rs587780305

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