ClinVar Miner

List of variants in gene KCNV2 studied for Cone dystrophy with supernormal rod response

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_133497.4(KCNV2):c.-42C>G rs7029012 0.60151
NM_133497.4(KCNV2):c.183C>G (p.Gly61=) rs10967705 0.59972
NM_133497.4(KCNV2):c.795C>G (p.Ala265=) rs12237048 0.45225
NM_133497.4(KCNV2):c.-64T>G rs11793555 0.16561
NM_133497.4(KCNV2):c.1597C>G (p.Leu533Val) rs12352254 0.15512
NM_133497.4(KCNV2):c.*6T>C rs41306094 0.10348
NM_133497.4(KCNV2):c.759A>G (p.Pro253=) rs10967709 0.10241
NM_133497.4(KCNV2):c.*262T>A rs57109373 0.08241
NM_133497.4(KCNV2):c.1386C>T (p.Asp462=) rs41312842 0.06369
NM_133497.4(KCNV2):c.978C>T (p.Asp326=) rs7860945 0.04812
NM_133497.4(KCNV2):c.915G>A (p.Val305=) rs7859993 0.04465
NM_133497.4(KCNV2):c.*308T>G rs60723920 0.01938
NM_133497.4(KCNV2):c.1616T>C (p.Leu539Pro) rs112673841 0.01355
NM_133497.4(KCNV2):c.849G>A (p.Glu283=) rs17656693 0.00801
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=) rs142744007 0.00709
NM_133497.4(KCNV2):c.676G>A (p.Val226Ile) rs74587818 0.00669
NM_133497.4(KCNV2):c.854T>G (p.Met285Arg) rs148050307 0.00652
NM_133497.4(KCNV2):c.312T>C (p.Gly104=) rs150685794 0.00511
NM_133497.4(KCNV2):c.*184C>T rs147633417 0.00410
NM_133497.4(KCNV2):c.291C>T (p.Ser97=) rs113456345 0.00237
NM_133497.4(KCNV2):c.1308G>A (p.Val436=) rs139581747 0.00225
NM_133497.4(KCNV2):c.1026C>T (p.Ala342=) rs141789289 0.00222
NM_133497.4(KCNV2):c.*65T>A rs183191721 0.00212
NM_133497.4(KCNV2):c.1607A>G (p.Asn536Ser) rs77811928 0.00165
NM_133497.4(KCNV2):c.-111C>T rs188986938 0.00158
NM_133497.4(KCNV2):c.612G>A (p.Glu204=) rs186159326 0.00123
NM_133497.4(KCNV2):c.*170A>G rs10967769 0.00094
NM_133497.4(KCNV2):c.121G>A (p.Ala41Thr) rs148031263 0.00083
NM_133497.4(KCNV2):c.991G>T (p.Ala331Ser) rs545829113 0.00066
NM_133497.4(KCNV2):c.957G>A (p.Leu319=) rs141378856 0.00053
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) rs146685593 0.00050
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_133497.4(KCNV2):c.16G>C (p.Glu6Gln) rs143189186 0.00038
NM_133497.4(KCNV2):c.-69G>A rs571461805 0.00036
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn) rs201327014 0.00035
NM_133497.4(KCNV2):c.1148G>T (p.Arg383Leu) rs141881396 0.00031
NM_133497.4(KCNV2):c.-145T>C rs528809457 0.00024
NM_133497.4(KCNV2):c.1040A>T (p.Tyr347Phe) rs530163400 0.00023
NM_133497.4(KCNV2):c.-36C>T rs369580579 0.00019
NM_133497.4(KCNV2):c.1043T>C (p.Leu348Pro) rs201425989 0.00016
NM_133497.4(KCNV2):c.1196C>T (p.Ala399Val) rs200444639 0.00016
NM_133497.4(KCNV2):c.258C>G (p.Pro86=) rs143109320 0.00014
NM_133497.4(KCNV2):c.1118G>C (p.Gly373Ala) rs201564009 0.00011
NM_133497.4(KCNV2):c.245C>T (p.Thr82Ile) rs370044423 0.00011
NM_133497.4(KCNV2):c.1144A>T (p.Met382Leu) rs757516625 0.00007
NM_133497.4(KCNV2):c.430G>A (p.Glu144Lys) rs777051584 0.00007
NM_133497.4(KCNV2):c.-19G>C rs775888664 0.00006
NM_133497.4(KCNV2):c.-9T>C rs773711302 0.00006
NM_133497.4(KCNV2):c.*131T>C rs529212879 0.00004
NM_133497.4(KCNV2):c.-204A>C rs886063816 0.00004
NM_133497.4(KCNV2):c.145G>A (p.Gly49Ser) rs777604507 0.00004
NM_133497.4(KCNV2):c.180C>T (p.Asp60=) rs1403529555 0.00004
NM_133497.4(KCNV2):c.38A>G (p.Tyr13Cys) rs774058342 0.00004
NM_133497.4(KCNV2):c.432G>A (p.Glu144=) rs530006522 0.00004
NM_133497.4(KCNV2):c.576C>G (p.Leu192=) rs762082451 0.00004
NM_133497.4(KCNV2):c.820G>A (p.Val274Met) rs754107665 0.00004
NM_133497.4(KCNV2):c.97C>T (p.Leu33=) rs886063819 0.00004
NM_133497.4(KCNV2):c.-6G>A rs373371383 0.00003
NM_133497.4(KCNV2):c.-94A>T rs943155660 0.00003
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=) rs199886720 0.00003
NM_133497.4(KCNV2):c.357dup (p.Lys120fs) rs1402837406 0.00003
NM_133497.4(KCNV2):c.719G>A (p.Gly240Asp) rs759416842 0.00003
NM_133497.4(KCNV2):c.882C>T (p.Gly294=) rs750779235 0.00003
NM_133497.4(KCNV2):c.-180G>A rs886063817 0.00002
NM_133497.4(KCNV2):c.1123G>A (p.Val375Met) rs568147806 0.00002
NM_133497.4(KCNV2):c.217G>C (p.Glu73Gln) rs752013234 0.00002
NM_133497.4(KCNV2):c.-161G>A rs886063818 0.00001
NM_133497.4(KCNV2):c.132C>T (p.His44=) rs767774622 0.00001
NM_133497.4(KCNV2):c.1347G>A (p.Trp449Ter) rs778977288 0.00001
NM_133497.4(KCNV2):c.1A>G (p.Met1Val) rs760755040 0.00001
NM_133497.4(KCNV2):c.20G>T (p.Arg7Met) rs370186140 0.00001
NM_133497.4(KCNV2):c.253A>G (p.Lys85Glu) rs1361483057 0.00001
NM_133497.4(KCNV2):c.325C>T (p.Gln109Ter) rs1478587308 0.00001
NM_133497.4(KCNV2):c.796T>G (p.Ser266Ala) rs745567670 0.00001
NM_133497.4(KCNV2):c.999C>T (p.Ser333=) rs946520647 0.00001
NC_000009.11:g.2716981_2787016del
NG_012181.1:g.5233_16321delinsCATTTG
NM_133497.4(KCNV2):c.*114C>A rs1820039673
NM_133497.4(KCNV2):c.*90A>G rs886063832
NM_133497.4(KCNV2):c.-15C>T rs181712064
NM_133497.4(KCNV2):c.1007ACCTGGTGG[1] (p.Asp339_Val341del) rs786205064
NM_133497.4(KCNV2):c.103G>A (p.Ala35Thr) rs771666119
NM_133497.4(KCNV2):c.1049_1052dup (p.Leu352fs) rs886063821
NM_133497.4(KCNV2):c.1063T>C (p.Phe355Leu) rs75645675
NM_133497.4(KCNV2):c.1096del (p.Val366fs) rs1486482604
NM_133497.4(KCNV2):c.1109G>C (p.Gly370Ala) rs534563578
NM_133497.4(KCNV2):c.1199del (p.Phe400fs) rs768486552
NM_133497.4(KCNV2):c.1258A>G (p.Met420Val) rs1413316237
NM_133497.4(KCNV2):c.1348T>A (p.Trp450Arg) rs748180390
NM_133497.4(KCNV2):c.1357-9C>T rs1820024800
NM_133497.4(KCNV2):c.1376G>A (p.Gly459Asp) rs104894115
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_133497.4(KCNV2):c.1408G>C (p.Gly470Arg)
NM_133497.4(KCNV2):c.1411A>T (p.Arg471Trp) rs1820027191
NM_133497.4(KCNV2):c.1500C>G (p.Tyr500Ter)
NM_133497.4(KCNV2):c.153T>G (p.Tyr51Ter) rs950492553
NM_133497.4(KCNV2):c.161A>C (p.Tyr54Ser) rs1819763573
NM_133497.4(KCNV2):c.199T>C (p.Trp67Arg) rs543226684
NM_133497.4(KCNV2):c.225C>T (p.Asp75=) rs532418456
NM_133497.4(KCNV2):c.226C>T (p.Gln76Ter) rs387907302
NM_133497.4(KCNV2):c.238G>T (p.Glu80Ter)
NM_133497.4(KCNV2):c.326A>G (p.Gln109Arg)
NM_133497.4(KCNV2):c.328C>T (p.Leu110=) rs372942165
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter) rs202036979
NM_133497.4(KCNV2):c.364C>G (p.Arg122Gly) rs761130319
NM_133497.4(KCNV2):c.389C>T (p.Thr130Ile) rs541196988
NM_133497.4(KCNV2):c.417C>A (p.Cys139Ter) rs748280472
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) rs104894113
NM_133497.4(KCNV2):c.442G>A (p.Glu148Lys) rs140256288
NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter) rs140256288
NM_133497.4(KCNV2):c.454G>T (p.Asp152Tyr) rs377667539
NM_133497.4(KCNV2):c.491T>C (p.Phe164Ser) rs397514604
NM_133497.4(KCNV2):c.507G>A (p.Val169=) rs1819777840
NM_133497.4(KCNV2):c.617G>A (p.Arg206Gln) rs780813722
NM_133497.4(KCNV2):c.617G>C (p.Arg206Pro) rs780813722
NM_133497.4(KCNV2):c.617G>T (p.Arg206Leu) rs780813722
NM_133497.4(KCNV2):c.671C>T (p.Ala224Val) rs776156112
NM_133497.4(KCNV2):c.707T>G (p.Met236Arg) rs1819786525
NM_133497.4(KCNV2):c.762C>G (p.Phe254Leu) rs147022958
NM_133497.4(KCNV2):c.767C>G (p.Ser256Trp) rs104894116
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs) rs786205121
NM_133497.4(KCNV2):c.916G>T (p.Glu306Ter) rs104894114
NM_133497.4:c.1357_1638del rs1820025037

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