ClinVar Miner

List of variants in gene CTDP1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103
NM_004715.5(CTDP1):c.77G>A (p.Gly26Glu) rs1230507450 0.00045
NM_004715.5(CTDP1):c.668C>T (p.Thr223Met) rs149796311 0.00043
NM_004715.5(CTDP1):c.2395C>T (p.Arg799Cys) rs148053048 0.00039
NM_004715.5(CTDP1):c.2323G>A (p.Asp775Asn) rs145870152 0.00038
NM_004715.5(CTDP1):c.2728G>A (p.Ala910Thr) rs752001166 0.00026
NM_004715.5(CTDP1):c.2872A>C (p.Asn958His) rs144682012 0.00025
NM_004715.5(CTDP1):c.43C>T (p.Pro15Ser) rs1162304689 0.00024
NM_004715.5(CTDP1):c.28C>T (p.Pro10Ser) rs1055392587 0.00017
NM_004715.5(CTDP1):c.669G>A (p.Thr223=) rs146831211 0.00017
NM_004715.5(CTDP1):c.2504A>G (p.Lys835Arg) rs1036854570 0.00014
NM_004715.5(CTDP1):c.71G>T (p.Cys24Phe) rs1013867401 0.00009
NM_004715.5(CTDP1):c.232C>T (p.Arg78Trp) rs1400279314 0.00008
NM_004715.5(CTDP1):c.1145G>A (p.Arg382Gln) rs768878157 0.00007
NM_004715.5(CTDP1):c.2782G>A (p.Ala928Thr) rs541510090 0.00006
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu) rs758618193 0.00006
NM_004715.5(CTDP1):c.2374C>T (p.Pro792Ser) rs376105777 0.00005
NM_004715.5(CTDP1):c.1289C>T (p.Ala430Val) rs745911379 0.00004
NM_004715.5(CTDP1):c.2384C>G (p.Ser795Cys) rs763053751 0.00004
NM_004715.5(CTDP1):c.2239C>T (p.Arg747Trp) rs769525684 0.00003
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met) rs143464787 0.00002
NM_004715.5(CTDP1):c.1042C>T (p.Arg348Ter) rs143386695 0.00001
NM_004715.5(CTDP1):c.1609G>A (p.Glu537Lys) rs146547758 0.00001
NM_004715.5(CTDP1):c.170C>G (p.Ser57Cys) rs1337494266 0.00001
NM_004715.5(CTDP1):c.1723A>G (p.Ser575Gly) rs779827748 0.00001
NM_004715.5(CTDP1):c.1961C>T (p.Thr654Met) rs777623040 0.00001
NM_004715.5(CTDP1):c.2083C>G (p.Leu695Val) rs770079179 0.00001
NM_004715.5(CTDP1):c.220G>C (p.Val74Leu) rs936183704 0.00001
NM_004715.5(CTDP1):c.2315G>A (p.Arg772Gln) rs771616103 0.00001
NM_004715.5(CTDP1):c.2333C>T (p.Thr778Met) rs765240178 0.00001
NM_004715.5(CTDP1):c.2656C>T (p.Pro886Ser) rs1027845830 0.00001
NM_004715.5(CTDP1):c.2689C>T (p.Arg897Trp) rs1023431489 0.00001
NM_004715.5(CTDP1):c.2693C>T (p.Thr898Met) rs771577692 0.00001
NM_004715.5(CTDP1):c.2738G>A (p.Arg913Gln) rs1365031542 0.00001
NM_004715.5(CTDP1):c.413A>G (p.Asn138Ser) rs754182939 0.00001
GRCh37/hg19 18q23(chr18:77403088-77520138)x1
GRCh37/hg19 18q23(chr18:77410593-77495466)x3
NC_000018.10:g.79717541_79717560del
NC_000018.9:g.(?_77439948)_(77456090_?)dup
NC_000018.9:g.(?_77464747)_(77513790_?)del
NC_000018.9:g.(?_77477515)_(77513790_?)dup
NC_000018.9:g.(?_77513632)_(77513790_?)dup
NM_004715.5(CTDP1):c.1009G>A (p.Glu337Lys)
NM_004715.5(CTDP1):c.102G>T (p.Glu34Asp)
NM_004715.5(CTDP1):c.1031-8A>C rs1052953522
NM_004715.5(CTDP1):c.1034A>T (p.Asn345Ile)
NM_004715.5(CTDP1):c.113C>T (p.Ala38Val)
NM_004715.5(CTDP1):c.1162G>A (p.Glu388Lys)
NM_004715.5(CTDP1):c.1364C>T (p.Ser455Phe)
NM_004715.5(CTDP1):c.136G>A (p.Gly46Ser)
NM_004715.5(CTDP1):c.1400C>A (p.Thr467Lys)
NM_004715.5(CTDP1):c.1421C>T (p.Ser474Phe) rs756212491
NM_004715.5(CTDP1):c.14C>T (p.Ala5Val)
NM_004715.5(CTDP1):c.1543G>A (p.Gly515Arg)
NM_004715.5(CTDP1):c.1592G>A (p.Gly531Asp)
NM_004715.5(CTDP1):c.160G>T (p.Ala54Ser)
NM_004715.5(CTDP1):c.161C>T (p.Ala54Val)
NM_004715.5(CTDP1):c.166G>A (p.Ala56Thr)
NM_004715.5(CTDP1):c.1728GGA[6] (p.Glu582del) rs3833180
NM_004715.5(CTDP1):c.172G>T (p.Ala58Ser)
NM_004715.5(CTDP1):c.175C>G (p.Gln59Glu)
NM_004715.5(CTDP1):c.184G>A (p.Gly62Arg)
NM_004715.5(CTDP1):c.1859C>T (p.Pro620Leu)
NM_004715.5(CTDP1):c.185G>A (p.Gly62Glu)
NM_004715.5(CTDP1):c.187G>T (p.Ala63Ser)
NM_004715.5(CTDP1):c.190T>C (p.Ser64Pro)
NM_004715.5(CTDP1):c.1949C>T (p.Pro650Leu)
NM_004715.5(CTDP1):c.2056G>A (p.Ala686Thr)
NM_004715.5(CTDP1):c.206C>A (p.Ala69Asp) rs771395058
NM_004715.5(CTDP1):c.2101G>A (p.Gly701Arg)
NM_004715.5(CTDP1):c.2113G>A (p.Val705Met)
NM_004715.5(CTDP1):c.2116G>C (p.Val706Leu)
NM_004715.5(CTDP1):c.212G>A (p.Gly71Glu)
NM_004715.5(CTDP1):c.2149C>T (p.Arg717Cys)
NM_004715.5(CTDP1):c.2150G>A (p.Arg717His)
NM_004715.5(CTDP1):c.215G>A (p.Gly72Asp)
NM_004715.5(CTDP1):c.2167G>C (p.Glu723Gln)
NM_004715.5(CTDP1):c.2206C>G (p.Gln736Glu)
NM_004715.5(CTDP1):c.2210+3G>A
NM_004715.5(CTDP1):c.2212G>A (p.Glu738Lys)
NM_004715.5(CTDP1):c.2221C>T (p.Pro741Ser)
NM_004715.5(CTDP1):c.223C>T (p.Arg75Cys)
NM_004715.5(CTDP1):c.2240G>A (p.Arg747Gln)
NM_004715.5(CTDP1):c.2260G>T (p.Ala754Ser) rs142285723
NM_004715.5(CTDP1):c.2279C>T (p.Pro760Leu)
NM_004715.5(CTDP1):c.227C>G (p.Pro76Arg)
NM_004715.5(CTDP1):c.2293G>T (p.Ala765Ser)
NM_004715.5(CTDP1):c.2307C>T (p.Pro769=) rs1403055370
NM_004715.5(CTDP1):c.2351C>T (p.Thr784Met)
NM_004715.5(CTDP1):c.2356G>A (p.Ala786Thr)
NM_004715.5(CTDP1):c.2359C>T (p.Arg787Trp)
NM_004715.5(CTDP1):c.235C>T (p.Pro79Ser) rs1312562752
NM_004715.5(CTDP1):c.236C>T (p.Pro79Leu)
NM_004715.5(CTDP1):c.2372C>T (p.Ala791Val)
NM_004715.5(CTDP1):c.2380A>G (p.Ser794Gly)
NM_004715.5(CTDP1):c.2381G>C (p.Ser794Thr)
NM_004715.5(CTDP1):c.2396G>A (p.Arg799His) rs543624840
NM_004715.5(CTDP1):c.2399A>G (p.Gln800Arg)
NM_004715.5(CTDP1):c.2401G>A (p.Glu801Lys)
NM_004715.5(CTDP1):c.2417+4C>T
NM_004715.5(CTDP1):c.2417+5G>A
NM_004715.5(CTDP1):c.2420C>A (p.Ala807Glu) rs777446741
NM_004715.5(CTDP1):c.2420C>T (p.Ala807Val)
NM_004715.5(CTDP1):c.2431C>T (p.Pro811Ser)
NM_004715.5(CTDP1):c.2435A>G (p.Gln812Arg)
NM_004715.5(CTDP1):c.2456A>C (p.Glu819Ala)
NM_004715.5(CTDP1):c.2467G>A (p.Ala823Thr)
NM_004715.5(CTDP1):c.2491C>T (p.Pro831Ser)
NM_004715.5(CTDP1):c.2510A>C (p.Gln837Pro)
NM_004715.5(CTDP1):c.254C>T (p.Ser85Leu)
NM_004715.5(CTDP1):c.2587G>A (p.Asp863Asn)
NM_004715.5(CTDP1):c.2608G>A (p.Asp870Asn)
NM_004715.5(CTDP1):c.2613CAGCGA[1] (p.871DS[1])
NM_004715.5(CTDP1):c.2617G>A (p.Asp873Asn)
NM_004715.5(CTDP1):c.2623G>A (p.Glu875Lys)
NM_004715.5(CTDP1):c.2628G>T (p.Lys876Asn)
NM_004715.5(CTDP1):c.2645A>C (p.Gln882Pro)
NM_004715.5(CTDP1):c.2645A>G (p.Gln882Arg)
NM_004715.5(CTDP1):c.2651A>G (p.Glu884Gly)
NM_004715.5(CTDP1):c.2665C>T (p.Arg889Trp)
NM_004715.5(CTDP1):c.2666G>A (p.Arg889Gln)
NM_004715.5(CTDP1):c.2675G>A (p.Gly892Glu) rs573300127
NM_004715.5(CTDP1):c.2681G>A (p.Arg894His)
NM_004715.5(CTDP1):c.2681G>T (p.Arg894Leu) rs373540065
NM_004715.5(CTDP1):c.268G>A (p.Val90Met)
NM_004715.5(CTDP1):c.2690G>A (p.Arg897Gln)
NM_004715.5(CTDP1):c.2698G>A (p.Gly900Arg)
NM_004715.5(CTDP1):c.2708C>T (p.Ala903Val)
NM_004715.5(CTDP1):c.2726C>T (p.Ala909Val)
NM_004715.5(CTDP1):c.2727_2728del (p.Ala910fs)
NM_004715.5(CTDP1):c.2731G>C (p.Gly911Arg) rs2086670314
NM_004715.5(CTDP1):c.2735G>A (p.Gly912Asp)
NM_004715.5(CTDP1):c.2737C>T (p.Arg913Trp)
NM_004715.5(CTDP1):c.275G>A (p.Arg92Gln)
NM_004715.5(CTDP1):c.2779G>A (p.Ala927Thr)
NM_004715.5(CTDP1):c.277G>C (p.Glu93Gln)
NM_004715.5(CTDP1):c.2788G>A (p.Glu930Lys)
NM_004715.5(CTDP1):c.280C>A (p.Leu94Met)
NM_004715.5(CTDP1):c.2812G>A (p.Glu938Lys)
NM_004715.5(CTDP1):c.2816_2817delinsGC (p.Asp939Gly)
NM_004715.5(CTDP1):c.2817_2818inv (p.Glu940Lys)
NM_004715.5(CTDP1):c.2818G>A (p.Glu940Lys)
NM_004715.5(CTDP1):c.2855C>T (p.Ala952Val)
NM_004715.5(CTDP1):c.285C>A (p.Cys95Ter) rs887043576
NM_004715.5(CTDP1):c.2881_2882del (p.Met961fs)
NM_004715.5(CTDP1):c.299A>G (p.Gln100Arg)
NM_004715.5(CTDP1):c.325G>A (p.Val109Met)
NM_004715.5(CTDP1):c.34G>C (p.Glu12Gln)
NM_004715.5(CTDP1):c.380G>A (p.Cys127Tyr)
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_004715.5(CTDP1):c.399-1G>A
NM_004715.5(CTDP1):c.415G>A (p.Gly139Arg)
NM_004715.5(CTDP1):c.425A>T (p.Gln142Leu)
NM_004715.5(CTDP1):c.46A>C (p.Thr16Pro)
NM_004715.5(CTDP1):c.490G>A (p.Glu164Lys)
NM_004715.5(CTDP1):c.527G>A (p.Arg176Gln)
NM_004715.5(CTDP1):c.535C>T (p.Arg179Ter)
NM_004715.5(CTDP1):c.536G>A (p.Arg179Gln)
NM_004715.5(CTDP1):c.58G>A (p.Ala20Thr)
NM_004715.5(CTDP1):c.58G>T (p.Ala20Ser)
NM_004715.5(CTDP1):c.604C>T (p.Gln202Ter)
NM_004715.5(CTDP1):c.613T>G (p.Ser205Ala)
NM_004715.5(CTDP1):c.621+6T>C
NM_004715.5(CTDP1):c.639G>A (p.Gln213=)
NM_004715.5(CTDP1):c.670C>G (p.Arg224Gly) rs757261464
NM_004715.5(CTDP1):c.6G>T (p.Glu2Asp)
NM_004715.5(CTDP1):c.730G>A (p.Val244Ile)
NM_004715.5(CTDP1):c.73C>T (p.Pro25Ser)
NM_004715.5(CTDP1):c.743G>C (p.Gly248Ala)
NM_004715.5(CTDP1):c.761A>T (p.His254Leu)
NM_004715.5(CTDP1):c.772+5G>A
NM_004715.5(CTDP1):c.787G>A (p.Glu263Lys)
NM_004715.5(CTDP1):c.796C>A (p.Leu266Ile)
NM_004715.5(CTDP1):c.864-3T>C
NM_004715.5(CTDP1):c.864-5T>A
NM_004715.5(CTDP1):c.92G>T (p.Arg31Leu)
NM_004715.5(CTDP1):c.938A>G (p.Asn313Ser)
NM_004715.5(CTDP1):c.954G>A (p.Lys318=)
NM_004715.5(CTDP1):c.977C>T (p.Thr326Met)

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