ClinVar Miner

List of variants in gene CDT1 studied for not specified

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Total variants: 44
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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.933+13C>T rs3218722 0.14625
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.1610C>T (p.Ala537Val) rs3218721 0.02004
NM_030928.4(CDT1):c.1179G>C (p.Gly393=) rs74035837 0.01762
NM_030928.4(CDT1):c.*6G>C rs3218723 0.01684
NM_030928.4(CDT1):c.1521G>A (p.Pro507=) rs139633564 0.00773
NM_030928.4(CDT1):c.185C>T (p.Ala62Val) rs561655241 0.00729
NM_030928.4(CDT1):c.435G>A (p.Gln145=) rs3218731 0.00631
NM_030928.4(CDT1):c.1367A>C (p.Glu456Ala) rs3218729 0.00618
NM_030928.4(CDT1):c.1472G>A (p.Ser491Asn) rs146199695 0.00591
NM_030928.4(CDT1):c.404C>T (p.Ala135Val) rs3218725 0.00448
NM_030928.4(CDT1):c.292A>G (p.Ile98Val) rs142692932 0.00432
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.1411C>G (p.Pro471Ala) rs141663679 0.00207
NM_030928.4(CDT1):c.1546C>T (p.Arg516Cys) rs144721725 0.00157
NM_030928.4(CDT1):c.1581G>A (p.Ala527=) rs77893539 0.00147
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.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.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.1389C>T (p.Ser463=) rs142465113 0.00002
NM_030928.4(CDT1):c.738C>T (p.Ser246=) rs200892812 0.00002
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.782G>A (p.Gly261Asp) rs755194747 0.00001
NM_030928.4(CDT1):c.965T>C (p.Val322Ala) rs797045446 0.00001
NM_030928.4(CDT1):c.1196T>C (p.Leu399Pro) rs768108309
NM_030928.4(CDT1):c.1322G>A (p.Cys441Tyr) rs577749423
NM_030928.4(CDT1):c.1377C>T (p.Arg459=) rs3218730
NM_030928.4(CDT1):c.1635G>A (p.Gly545=)

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