ClinVar Miner

List of variants in gene CDT1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala) rs141663679 0.00207
NM_030928.4(CDT1):c.1631A>T (p.Glu544Val) rs144843732 0.00195
NM_030928.4(CDT1):c.900G>C (p.Gln300His) rs143149360 0.00167
NM_030928.4(CDT1):c.1546C>T (p.Arg516Cys) rs144721725 0.00157
NM_030928.4(CDT1):c.514C>T (p.Arg172Cys) rs3218727 0.00125
NM_030928.4(CDT1):c.*9G>A rs371269045 0.00094
NM_030928.4(CDT1):c.758G>A (p.Arg253His) rs148337159 0.00086
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp) rs200672589 0.00011
NM_030928.4(CDT1):c.268G>A (p.Ala90Thr) rs375032017 0.00007
NM_030928.4(CDT1):c.686+9C>T rs189449467 0.00007
NM_030928.4(CDT1):c.1552G>A (p.Asp518Asn) rs751315293 0.00004
NM_030928.4(CDT1):c.172G>C (p.Gly58Arg) rs767926757 0.00004
NM_030928.4(CDT1):c.1540C>T (p.Arg514Cys) rs766544551 0.00003
NM_030928.4(CDT1):c.1632G>C (p.Glu544Asp) rs556429460 0.00001
NM_030928.4(CDT1):c.535C>A (p.Pro179Thr) rs749112424 0.00001
NM_030928.4(CDT1):c.742C>T (p.Arg248Cys) rs149192605 0.00001
NM_030928.4(CDT1):c.782G>A (p.Gly261Asp) rs755194747 0.00001
NM_030928.4(CDT1):c.965T>C (p.Val322Ala) rs797045446 0.00001
NM_030928.4(CDT1):c.1030G>A (p.Glu344Lys) rs587780303
NM_030928.4(CDT1):c.1196T>C (p.Leu399Pro) rs768108309
NM_030928.4(CDT1):c.1322G>A (p.Cys441Tyr) rs577749423

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