ClinVar Miner

List of variants in gene KCTD7 studied for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 311
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153033.5(KCTD7):c.*944C>G rs9791712 0.67438
NM_153033.5(KCTD7):c.*2656A>G rs1860469 0.67430
NM_153033.5(KCTD7):c.*979C>A rs9791713 0.67429
NM_153033.5(KCTD7):c.*3033T>C rs1860468 0.51466
NM_153033.5(KCTD7):c.493+18_493+21dup rs57580125 0.11765
NM_153033.5(KCTD7):c.*3752C>G rs73133851 0.10548
NM_153033.5(KCTD7):c.*2805C>T rs1267818 0.09731
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_153033.5(KCTD7):c.*2080A>G rs73702140 0.04327
NM_153033.5(KCTD7):c.*1727G>C rs17229513 0.03560
NM_153033.5(KCTD7):c.*708C>T rs79736939 0.02502
NM_153033.5(KCTD7):c.*880T>C rs117143942 0.01621
NM_153033.4(KCTD7):c.*3961C>T rs144713969 0.01510
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_153033.5(KCTD7):c.*9G>T rs116630203 0.00745
NM_153033.5(KCTD7):c.*3238G>A rs144828027 0.00504
NM_153033.5(KCTD7):c.*216A>G rs77341088 0.00380
NM_153033.5(KCTD7):c.*3612G>A rs35633983 0.00306
NM_153033.5(KCTD7):c.*1619A>G rs115778754 0.00220
NM_153033.4(KCTD7):c.*3991G>C rs147205609 0.00168
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00148
NM_153033.5(KCTD7):c.*557A>T rs560766108 0.00147
NM_153033.5(KCTD7):c.*2009A>G rs184129807 0.00105
NM_153033.4(KCTD7):c.*3826G>C rs182211775 0.00068
NM_153033.5(KCTD7):c.*1978A>T rs537471141 0.00058
NM_153033.5(KCTD7):c.*2988A>G rs118004760 0.00057
NM_153033.5(KCTD7):c.*1839T>C rs137946765 0.00052
NM_153033.5(KCTD7):c.*1926G>A rs117267079 0.00043
NM_153033.5(KCTD7):c.*221G>T rs151151235 0.00037
NM_153033.5(KCTD7):c.*1587C>T rs190087991 0.00036
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00032
NM_153033.5(KCTD7):c.507G>C (p.Arg169=) rs142379946 0.00031
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_153033.5(KCTD7):c.*1581C>G rs570131389 0.00021
NM_153033.4(KCTD7):c.*3825T>A rs768325782 0.00019
NM_153033.5(KCTD7):c.*2137T>C rs138958447 0.00017
NM_153033.5(KCTD7):c.361C>T (p.Arg121Cys) rs199604642 0.00016
NM_153033.5(KCTD7):c.*1404G>A rs1007951856 0.00014
NM_153033.5(KCTD7):c.168C>T (p.Asn56=) rs371824397 0.00014
NM_153033.5(KCTD7):c.192A>G (p.Thr64=) rs142526573 0.00014
NM_153033.5(KCTD7):c.*668T>G rs765653009 0.00013
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_153033.5(KCTD7):c.621C>A (p.Leu207=) rs376944331 0.00011
NM_153033.5(KCTD7):c.*1960T>C rs752605506 0.00010
NM_153033.5(KCTD7):c.*738C>G rs755200443 0.00010
NM_153033.5(KCTD7):c.193C>T (p.Arg65Cys) rs200321023 0.00010
NM_153033.5(KCTD7):c.145-15G>T rs749343374 0.00008
NM_153033.5(KCTD7):c.411C>T (p.Leu137=) rs374072904 0.00008
NM_153033.5(KCTD7):c.*2530G>A rs188529052 0.00006
NM_153033.5(KCTD7):c.*3508G>T rs573049844 0.00006
NM_153033.5(KCTD7):c.*837A>G rs886062415 0.00006
NM_153033.5(KCTD7):c.216C>T (p.Tyr72=) rs745910052 0.00006
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His) rs149255570 0.00006
NM_153033.5(KCTD7):c.266C>T (p.Thr89Met) rs375586745 0.00006
NM_153033.5(KCTD7):c.493+7G>T rs1482884248 0.00006
NM_153033.5(KCTD7):c.*516T>C rs865998140 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_153033.4(KCTD7):c.*3836T>G rs370135424 0.00004
NM_153033.5(KCTD7):c.*3404T>C rs1206471914 0.00004
NM_153033.5(KCTD7):c.217G>A (p.Glu73Lys) rs772773351 0.00004
NM_153033.5(KCTD7):c.315-10T>C rs370881492 0.00004
NM_153033.5(KCTD7):c.506G>A (p.Arg169Gln) rs745917176 0.00004
NM_153033.5(KCTD7):c.523C>T (p.Arg175Trp) rs568539835 0.00004
NM_153033.5(KCTD7):c.*2746G>C rs886062424 0.00003
NM_153033.5(KCTD7):c.145T>C (p.Phe49Leu) rs559020294 0.00003
NM_153033.5(KCTD7):c.171C>T (p.Ile57=) rs376524066 0.00003
NM_153033.5(KCTD7):c.226A>G (p.Met76Val) rs200569899 0.00003
NM_153033.5(KCTD7):c.400A>G (p.Ile134Val) rs751720071 0.00003
NM_153033.5(KCTD7):c.519C>T (p.Ile173=) rs866499042 0.00003
NM_153033.5(KCTD7):c.*1624T>C rs765576236 0.00002
NM_153033.5(KCTD7):c.*2190C>T rs1435600618 0.00002
NM_153033.5(KCTD7):c.*2806G>A rs886062425 0.00002
NM_153033.5(KCTD7):c.145-4C>T rs368755155 0.00002
NM_153033.5(KCTD7):c.195C>T (p.Arg65=) rs755849045 0.00002
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln) rs200575329 0.00002
NM_153033.5(KCTD7):c.369A>C (p.Arg123=) rs753658170 0.00002
NM_153033.5(KCTD7):c.398C>T (p.Ala133Val) rs372103637 0.00002
NM_153033.5(KCTD7):c.439C>T (p.Leu147=) rs574847246 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_153033.5(KCTD7):c.493+14G>C rs886645555 0.00002
NM_153033.5(KCTD7):c.494-11C>T rs746601430 0.00002
NM_153033.5(KCTD7):c.494-14G>A rs1198171302 0.00002
NM_153033.5(KCTD7):c.534G>A (p.Ala178=) rs773060529 0.00002
NM_153033.5(KCTD7):c.594C>T (p.Pro198=) rs749192199 0.00002
NM_153033.5(KCTD7):c.614C>T (p.Pro205Leu) rs151338966 0.00002
NM_153033.5(KCTD7):c.723T>G (p.Val241=) rs771832195 0.00002
NM_153033.5(KCTD7):c.749C>T (p.Thr250Met) rs760837610 0.00002
NM_153033.5(KCTD7):c.*1123A>G rs886062418 0.00001
NM_153033.5(KCTD7):c.*1810C>T rs886062421 0.00001
NM_153033.5(KCTD7):c.*2322G>A rs886062423 0.00001
NM_153033.5(KCTD7):c.*2327T>C rs926998002 0.00001
NM_153033.5(KCTD7):c.*2822G>A rs533167133 0.00001
NM_153033.5(KCTD7):c.*365C>T rs1367502451 0.00001
NM_153033.5(KCTD7):c.*3700G>A rs1464418026 0.00001
NM_153033.5(KCTD7):c.*55C>T rs886062414 0.00001
NM_153033.5(KCTD7):c.*892C>T rs886062417 0.00001
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg) rs750033880 0.00001
NM_153033.5(KCTD7):c.181C>T (p.His61Tyr) rs368018261 0.00001
NM_153033.5(KCTD7):c.182A>G (p.His61Arg) rs529063727 0.00001
NM_153033.5(KCTD7):c.209G>A (p.Arg70Gln) rs749483829 0.00001
NM_153033.5(KCTD7):c.239T>C (p.Met80Thr) rs202167686 0.00001
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp) rs754476100 0.00001
NM_153033.5(KCTD7):c.257A>G (p.Tyr86Cys) rs188483031 0.00001
NM_153033.5(KCTD7):c.258C>T (p.Tyr86=) rs749010969 0.00001
NM_153033.5(KCTD7):c.259A>G (p.Ile87Val) rs1182254636 0.00001
NM_153033.5(KCTD7):c.264C>T (p.Pro88=) rs985251877 0.00001
NM_153033.5(KCTD7):c.274G>A (p.Glu92Lys) rs780710316 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln) rs984651812 0.00001
NM_153033.5(KCTD7):c.334C>T (p.Arg112Cys) rs769991459 0.00001
NM_153033.5(KCTD7):c.342G>A (p.Gly114=) rs145152329 0.00001
NM_153033.5(KCTD7):c.380A>G (p.Lys127Arg) rs765083971 0.00001
NM_153033.5(KCTD7):c.402C>T (p.Ile134=) rs754958440 0.00001
NM_153033.5(KCTD7):c.403G>A (p.Gly135Arg) rs781725855 0.00001
NM_153033.5(KCTD7):c.422_424dup (p.Leu141_Glu142insVal) rs747385800 0.00001
NM_153033.5(KCTD7):c.444G>T (p.Lys148Asn) rs746540809 0.00001
NM_153033.5(KCTD7):c.447C>T (p.Gly149=) rs767984903 0.00001
NM_153033.5(KCTD7):c.456G>A (p.Val152=) rs796052686 0.00001
NM_153033.5(KCTD7):c.494-3T>C rs1786646567 0.00001
NM_153033.5(KCTD7):c.524G>A (p.Arg175Gln) rs758709078 0.00001
NM_153033.5(KCTD7):c.530G>A (p.Arg177His) rs1469857830 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153033.5(KCTD7):c.541C>T (p.Arg181Trp) rs750770298 0.00001
NM_153033.5(KCTD7):c.542G>A (p.Arg181Gln) rs754654827 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153033.5(KCTD7):c.551G>A (p.Arg184His) rs747676224 0.00001
NM_153033.5(KCTD7):c.602C>G (p.Pro201Arg) rs774050685 0.00001
NM_153033.5(KCTD7):c.623A>G (p.Asn208Ser) rs762356641 0.00001
NM_153033.5(KCTD7):c.632G>T (p.Arg211Leu) rs376332394 0.00001
NM_153033.5(KCTD7):c.640C>T (p.Arg214Trp) rs755711171 0.00001
NM_153033.5(KCTD7):c.641G>A (p.Arg214Gln) rs1362697719 0.00001
NM_153033.5(KCTD7):c.750G>A (p.Thr250=) rs374256335 0.00001
NM_153033.5(KCTD7):c.763C>G (p.Gln255Glu) rs766720725 0.00001
NM_153033.5(KCTD7):c.774C>T (p.Thr258=) rs751953589 0.00001
NM_153033.5(KCTD7):c.792C>T (p.Ile264=) rs368680616 0.00001
NM_153033.5(KCTD7):c.813C>T (p.Leu271=) rs766332054 0.00001
NM_153033.5(KCTD7):c.827A>G (p.Tyr276Cys) rs141191660 0.00001
NM_153033.5(KCTD7):c.861A>G (p.Thr287=) rs367591875 0.00001
NC_000007.13:g.(?_66094052)_(66094215_?)dup
NC_000007.13:g.(?_66094052)_(66103438_?)dup
NC_000007.13:g.(?_66094052)_(66104219_?)del
NC_000007.13:g.(?_66098242)_(66098451_?)dup
NC_000007.13:g.(?_66103220)_(66104219_?)del
NC_000007.13:g.(?_66103220)_(66105401_?)dup
NC_000007.13:g.(?_66103230)_(66104219_?)dup
NC_000007.14:g.(?_66629045)_(66640414_?)del
NC_000007.14:g.(?_66638233)_(66639252_?)del
NM_153033.4:c.315-?_*3997+?dup
NM_153033.5(KCTD7):c.*1293A>G rs886062419
NM_153033.5(KCTD7):c.*1334T>C rs1786692699
NM_153033.5(KCTD7):c.*1740G>A rs886062420
NM_153033.5(KCTD7):c.*1911C>G rs565110569
NM_153033.5(KCTD7):c.*2163C>T rs375853768
NM_153033.5(KCTD7):c.*2175C>A rs369221941
NM_153033.5(KCTD7):c.*2692A>G rs573138370
NM_153033.5(KCTD7):c.*2837G>A rs1786731447
NM_153033.5(KCTD7):c.*2868C>T rs886062426
NM_153033.5(KCTD7):c.*2973G>A rs1786735065
NM_153033.5(KCTD7):c.*354C>G rs540871291
NM_153033.5(KCTD7):c.*3730C>T rs1786753910
NM_153033.5(KCTD7):c.*690G>A rs4718382
NM_153033.5(KCTD7):c.*690G>C rs4718382
NM_153033.5(KCTD7):c.145-17T>A rs2116763618
NM_153033.5(KCTD7):c.145-19C>G
NM_153033.5(KCTD7):c.145-19C>T
NM_153033.5(KCTD7):c.145-2A>G rs1554397774
NM_153033.5(KCTD7):c.145-5del
NM_153033.5(KCTD7):c.145-6T>C
NM_153033.5(KCTD7):c.147T>G (p.Phe49Leu) rs2116763687
NM_153033.5(KCTD7):c.148C>G (p.Pro50Ala) rs1476493354
NM_153033.5(KCTD7):c.152A>T (p.Glu51Val) rs2116763702
NM_153033.5(KCTD7):c.153G>T (p.Glu51Asp) rs2116763706
NM_153033.5(KCTD7):c.154G>T (p.Val52Phe) rs2116763711
NM_153033.5(KCTD7):c.158T>C (p.Val53Ala) rs2116763713
NM_153033.5(KCTD7):c.169A>G (p.Ile57Val)
NM_153033.5(KCTD7):c.177G>T (p.Gly59=)
NM_153033.5(KCTD7):c.181C>G (p.His61Asp) rs368018261
NM_153033.5(KCTD7):c.188C>T (p.Thr63Ile) rs1258782993
NM_153033.5(KCTD7):c.204A>C (p.Thr68=) rs777859099
NM_153033.5(KCTD7):c.205C>G (p.Leu69Val) rs2116763829
NM_153033.5(KCTD7):c.205C>T (p.Leu69=)
NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp) rs867319899
NM_153033.5(KCTD7):c.224C>T (p.Thr75Ile)
NM_153033.5(KCTD7):c.231G>T (p.Leu77Phe) rs1786499355
NM_153033.5(KCTD7):c.235G>A (p.Ala79Thr)
NM_153033.5(KCTD7):c.238A>G (p.Met80Val) rs1554397798
NM_153033.5(KCTD7):c.252G>A (p.Arg84=)
NM_153033.5(KCTD7):c.270C>T (p.Asp90=) rs746002015
NM_153033.5(KCTD7):c.278G>A (p.Gly93Asp) rs373509859
NM_153033.5(KCTD7):c.278G>C (p.Gly93Ala) rs373509859
NM_153033.5(KCTD7):c.279C>T (p.Gly93=)
NM_153033.5(KCTD7):c.285C>T (p.Tyr95=) rs1584395905
NM_153033.5(KCTD7):c.291C>T (p.Ile97=) rs769023482
NM_153033.5(KCTD7):c.294C>T (p.Asp98=)
NM_153033.5(KCTD7):c.295C>A (p.Arg99=)
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter) rs267607199
NM_153033.5(KCTD7):c.296G>T (p.Arg99Leu) rs1275877072
NM_153033.5(KCTD7):c.302G>A (p.Gly101Asp) rs1554397831
NM_153033.5(KCTD7):c.308A>G (p.His103Arg) rs2116764091
NM_153033.5(KCTD7):c.314+13C>T rs1786503027
NM_153033.5(KCTD7):c.314+19A>C
NM_153033.5(KCTD7):c.314+1G>A rs1554397834
NM_153033.5(KCTD7):c.315-15T>C
NM_153033.5(KCTD7):c.315-17C>T
NM_153033.5(KCTD7):c.315-32_315-17del rs758037249
NM_153033.5(KCTD7):c.315-4T>A
NM_153033.5(KCTD7):c.315-4T>C rs932417352
NM_153033.5(KCTD7):c.315-5C>G
NM_153033.5(KCTD7):c.315-8C>G
NM_153033.5(KCTD7):c.315-9C>T rs746772828
NM_153033.5(KCTD7):c.322C>A (p.Leu108Met) rs387907263
NM_153033.5(KCTD7):c.330C>T (p.Phe110=)
NM_153033.5(KCTD7):c.331del (p.Leu111fs) rs1786631768
NM_153033.5(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153033.5(KCTD7):c.339A>G (p.Ser113=)
NM_153033.5(KCTD7):c.339_340del (p.Asp115fs) rs2116773782
NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr) rs387907262
NM_153033.5(KCTD7):c.345C>T (p.Asp115=)
NM_153033.5(KCTD7):c.346C>T (p.Leu116Phe) rs2116773826
NM_153033.5(KCTD7):c.351A>G (p.Pro117=)
NM_153033.5(KCTD7):c.362G>A (p.Arg121His) rs199624315
NM_153033.5(KCTD7):c.363T>C (p.Arg121=)
NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)
NM_153033.5(KCTD7):c.371C>G (p.Ala124Gly) rs1786632902
NM_153033.5(KCTD7):c.385G>A (p.Ala129Thr)
NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter) rs1207922864
NM_153033.5(KCTD7):c.393C>T (p.Tyr131=) rs2116773941
NM_153033.5(KCTD7):c.402C>A (p.Ile134=)
NM_153033.5(KCTD7):c.405G>C (p.Gly135=) rs555039386
NM_153033.5(KCTD7):c.414G>A (p.Leu138=) rs1786634017
NM_153033.5(KCTD7):c.417G>A (p.Glu139=) rs1554300872
NM_153033.5(KCTD7):c.419A>G (p.Gln140Arg)
NM_153033.5(KCTD7):c.428A>G (p.Asn143Ser) rs1786634540
NM_153033.5(KCTD7):c.431T>A (p.Met144Lys)
NM_153033.5(KCTD7):c.440T>C (p.Leu147Pro) rs775109352
NM_153033.5(KCTD7):c.448G>A (p.Glu150Lys)
NM_153033.5(KCTD7):c.457C>T (p.Arg153Cys) rs761707159
NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro) rs765235486
NM_153033.5(KCTD7):c.463G>A (p.Ala155Thr) rs2116774076
NM_153033.5(KCTD7):c.465G>A (p.Ala155=) rs773209661
NM_153033.5(KCTD7):c.472G>A (p.Gly158Arg)
NM_153033.5(KCTD7):c.481C>T (p.Pro161Ser)
NM_153033.5(KCTD7):c.485A>T (p.Tyr162Phe) rs2116774109
NM_153033.5(KCTD7):c.489C>T (p.Tyr163=) rs1057521582
NM_153033.5(KCTD7):c.493+16C>T
NM_153033.5(KCTD7):c.493+2_493+6del rs2116774137
NM_153033.5(KCTD7):c.493+3G>C
NM_153033.5(KCTD7):c.494-19G>A
NM_153033.5(KCTD7):c.494-5T>C rs2116774978
NM_153033.5(KCTD7):c.494-7C>T rs768234025
NM_153033.5(KCTD7):c.494A>G (p.Asp165Gly)
NM_153033.5(KCTD7):c.501G>C (p.Leu167Phe)
NM_153033.5(KCTD7):c.505C>T (p.Arg169Trp)
NM_153033.5(KCTD7):c.517A>C (p.Ile173Leu)
NM_153033.5(KCTD7):c.518T>A (p.Ile173Asn)
NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr)
NM_153033.5(KCTD7):c.523C>G (p.Arg175Gly) rs568539835
NM_153033.5(KCTD7):c.528G>C (p.Leu176=)
NM_153033.5(KCTD7):c.529C>T (p.Arg177Cys) rs1273966098
NM_153033.5(KCTD7):c.536T>C (p.Val179Ala) rs1362176294
NM_153033.5(KCTD7):c.549C>G (p.Ala183=) rs1786648622
NM_153033.5(KCTD7):c.564C>G (p.Leu188=)
NM_153033.5(KCTD7):c.569T>C (p.Val190Ala)
NM_153033.5(KCTD7):c.594C>G (p.Pro198=) rs749192199
NM_153033.5(KCTD7):c.594del (p.Ile199fs) rs727502785
NM_153033.5(KCTD7):c.601C>A (p.Pro201Thr) rs2116775195
NM_153033.5(KCTD7):c.605A>G (p.Tyr202Cys) rs1786649598
NM_153033.5(KCTD7):c.611G>A (p.Cys204Tyr) rs1786649821
NM_153033.5(KCTD7):c.612T>C (p.Cys204=)
NM_153033.5(KCTD7):c.616C>A (p.Leu206Ile)
NM_153033.5(KCTD7):c.618C>G (p.Leu206=)
NM_153033.5(KCTD7):c.628C>G (p.Leu210Val)
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter) rs750811871
NM_153033.5(KCTD7):c.636T>A (p.Phe212Leu) rs752360120
NM_153033.5(KCTD7):c.636T>G (p.Phe212Leu) rs752360120
NM_153033.5(KCTD7):c.639G>A (p.Glu213=)
NM_153033.5(KCTD7):c.642G>C (p.Arg214=)
NM_153033.5(KCTD7):c.650G>A (p.Ser217Asn) rs1786651523
NM_153033.5(KCTD7):c.677G>C (p.Cys226Ser) rs1554300943
NM_153033.5(KCTD7):c.681A>T (p.Glu227Asp)
NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr) rs2116775490
NM_153033.5(KCTD7):c.696del (p.Phe232fs) rs2116775509
NM_153033.5(KCTD7):c.698G>A (p.Gly233Glu) rs2116775521
NM_153033.5(KCTD7):c.699G>A (p.Gly233=)
NM_153033.5(KCTD7):c.704G>C (p.Trp235Ser) rs796052689
NM_153033.5(KCTD7):c.710C>G (p.Ala237Gly) rs1584399776
NM_153033.5(KCTD7):c.714G>A (p.Val238=)
NM_153033.5(KCTD7):c.727G>A (p.Asp243Asn) rs2116775565
NM_153033.5(KCTD7):c.730C>T (p.Leu244=) rs1241868814
NM_153033.5(KCTD7):c.750G>C (p.Thr250=) rs374256335
NM_153033.5(KCTD7):c.758C>T (p.Ser253Leu) rs761940050
NM_153033.5(KCTD7):c.759G>A (p.Ser253=) rs146540578
NM_153033.5(KCTD7):c.759G>T (p.Ser253=)
NM_153033.5(KCTD7):c.769C>G (p.Leu257Val) rs1554300955
NM_153033.5(KCTD7):c.773C>A (p.Thr258Asn) rs1786653994
NM_153033.5(KCTD7):c.784C>G (p.Gln262Glu) rs886043127
NM_153033.5(KCTD7):c.786G>A (p.Gln262=) rs1584399843
NM_153033.5(KCTD7):c.790A>C (p.Ile264Leu) rs763830869
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg) rs200415747
NM_153033.5(KCTD7):c.796G>T (p.Val266Leu) rs1297799073
NM_153033.5(KCTD7):c.807G>T (p.Lys269Asn)
NM_153033.5(KCTD7):c.810C>T (p.His270=) rs2116775769
NM_153033.5(KCTD7):c.811C>G (p.Leu271Val) rs2116775776
NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile) rs387907261
NM_153033.5(KCTD7):c.821A>G (p.His274Arg) rs2116775801
NM_153033.5(KCTD7):c.834G>A (p.Lys278=) rs746774522
NM_153033.5(KCTD7):c.845A>G (p.Tyr282Cys) rs1264632322
NM_153033.5(KCTD7):c.857T>A (p.Ile286Asn) rs2116775902
NM_153033.5(KCTD7):c.861_863del (p.Trp289del) rs2116775918

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