ClinVar Miner

List of variants in gene KCTD7 studied for neuronal ceroid lipofuscinosis

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 329
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.(?_66068499)_(66098288_?)del
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)_(66104219_?)dup
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.162C>A (p.Pro54=)
NM_153033.5(KCTD7):c.165T>C (p.Leu55=)
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.292G>A (p.Asp98Asn)
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+18C>G
NM_153033.5(KCTD7):c.314+19A>C
NM_153033.5(KCTD7):c.314+1G>A rs1554397834
NM_153033.5(KCTD7):c.314+20A>G
NM_153033.5(KCTD7):c.314+9C>T
NM_153033.5(KCTD7):c.315-15T>C
NM_153033.5(KCTD7):c.315-16T>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.321G>C (p.Val107=)
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.339A>T (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.368G>A (p.Arg123Gln)
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>G (p.Tyr131Ter)
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.514G>T (p.Glu172Ter)
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.604del (p.Tyr202fs)
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.731del (p.Leu244fs) rs2116775575
NM_153033.5(KCTD7):c.735G>T (p.Leu245=)
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.835_840del (p.Arg279_Pro280del)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.