ClinVar Miner

List of variants in gene CDT1 reported by GeneDx

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99945
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NC_000016.10:g.88803691T>C rs865103 0.49715
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.*92C>T rs15829 0.41579
NC_000016.10:g.88803626C>G rs4356464 0.18261
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.*201G>A rs1799825 0.05723
NC_000016.10:g.88803534C>A rs139880672 0.04217
NM_030928.4(CDT1):c.1500G>T (p.Leu500=) rs3218720 0.03976
NM_030928.4(CDT1):c.1276-22C>T rs3218724 0.03838
NM_030928.4(CDT1):c.1123-45C>A rs74035836 0.03617
NM_030928.4(CDT1):c.488+65G>A rs74035831 0.03530
NC_000016.10:g.88803697C>A rs550569413 0.02856
NM_030928.4(CDT1):c.1478-136T>A rs59945100 0.02031
NM_030928.4(CDT1):c.1610C>T (p.Ala537Val) rs3218721 0.02004
NM_030928.4(CDT1):c.*245C>T rs111978266 0.02003
NM_030928.4(CDT1):c.*302G>A rs116408076 0.01930
NM_030928.4(CDT1):c.933+102G>A rs74035835 0.01825
NM_030928.4(CDT1):c.1122+159C>T rs11640595 0.01817
NM_030928.4(CDT1):c.1179G>C (p.Gly393=) rs74035837 0.01762
NM_030928.4(CDT1):c.1477+52G>A rs115396767 0.01710
NM_030928.4(CDT1):c.*6G>C rs3218723 0.01684
NM_030928.4(CDT1):c.1477+191G>A rs149467820 0.01335
NC_000016.10:g.88803601G>A rs367877068 0.01162
NM_030928.4(CDT1):c.1477+242G>A rs71395326 0.00737
NM_030928.4(CDT1):c.185C>T (p.Ala62Val) rs561655241 0.00729
NM_030928.4(CDT1):c.1631A>T (p.Glu544Val) rs144843732 0.00188
NM_030928.4(CDT1):c.1604G>A (p.Arg535His) rs75595603 0.00042
NM_030928.4(CDT1):c.172G>C (p.Gly58Arg) rs767926757 0.00007
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00006
NM_030928.4(CDT1):c.868C>T (p.Arg290Cys) rs200820843 0.00004
NM_030928.4(CDT1):c.1097G>A (p.Arg366Gln) rs372945501 0.00001
NM_030928.4(CDT1):c.1478-1G>A rs1255717208 0.00001
NM_030928.4(CDT1):c.*43C>G rs3743548
NM_030928.4(CDT1):c.1337_1338delinsGCTTAGAA (p.Gln446delinsArgLeuGlu)
NM_030928.4(CDT1):c.1377C>T (p.Arg459=) rs3218730
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu) rs139038990
NM_030928.4(CDT1):c.686+5G>A rs755695035
NM_030928.4(CDT1):c.934-58T>C rs3218726

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