ClinVar Miner

List of variants studied for Progressive myoclonic epilepsy type 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 401
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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.-44C>T rs35526611 0.50683
NM_153033.5(KCTD7):c.493+18_493+21dup rs57580125 0.11765
NM_153033.5(KCTD7):c.*3752C>G rs73133851 0.10747
NM_153033.5(KCTD7):c.*2805C>T rs1267818 0.10216
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_153033.5(KCTD7):c.*2080A>G rs73702140 0.04065
NM_153033.5(KCTD7):c.*1727G>C rs17229513 0.03687
NM_153033.5(KCTD7):c.*708C>T rs79736939 0.02438
NM_153033.5(KCTD7):c.*880T>C rs117143942 0.01621
NM_153033.4(KCTD7):c.*3961C>T rs144713969 0.01481
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01460
NM_153033.5(KCTD7):c.*9G>T rs116630203 0.00745
NM_153033.5(KCTD7):c.*216A>G rs77341088 0.00543
NM_153033.5(KCTD7):c.*3238G>A rs144828027 0.00504
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.*557A>T rs560766108 0.00147
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00147
NM_153033.5(KCTD7):c.*2009A>G rs184129807 0.00099
NM_153033.5(KCTD7):c.*1926G>A rs117267079 0.00086
NM_153033.4(KCTD7):c.*3826G>C rs182211775 0.00069
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 0.00054
NM_153033.5(KCTD7):c.*1587C>T rs190087991 0.00044
NM_153033.5(KCTD7):c.-69C>T rs536230559 0.00038
NM_153033.5(KCTD7):c.*221G>T rs151151235 0.00037
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00032
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00029
NM_153033.5(KCTD7):c.507G>C (p.Arg169=) rs142379946 0.00028
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_153033.4(KCTD7):c.*3825T>A rs768325782 0.00019
NM_153033.5(KCTD7):c.*1581C>G rs570131389 0.00019
NM_153033.5(KCTD7):c.*2137T>C rs138958447 0.00017
NM_153033.5(KCTD7):c.-155G>C rs886062408 0.00016
NM_153033.5(KCTD7):c.133C>T (p.Leu45=) rs587780370 0.00016
NM_153033.5(KCTD7):c.361C>T (p.Arg121Cys) rs199604642 0.00016
NM_153033.5(KCTD7):c.*1404G>A rs1007951856 0.00015
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.-49C>T rs374505432 0.00013
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_153033.5(KCTD7):c.*738C>G rs755200443 0.00010
NM_153033.5(KCTD7):c.-181T>G rs886062407 0.00010
NM_153033.5(KCTD7):c.193C>T (p.Arg65Cys) rs200321023 0.00010
NM_153033.5(KCTD7):c.621C>A (p.Leu207=) rs376944331 0.00010
NM_153033.5(KCTD7):c.*1960T>C rs752605506 0.00009
NM_153033.5(KCTD7):c.-90G>A rs1031117251 0.00009
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.76G>T (p.Asp26Tyr) rs371919994 0.00007
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.*516T>C rs865998140 0.00006
NM_153033.5(KCTD7):c.*837A>G rs886062415 0.00006
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His) rs149255570 0.00006
NM_153033.5(KCTD7):c.493+7G>T rs1482884248 0.00006
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_153033.5(KCTD7):c.266C>T (p.Thr89Met) rs375586745 0.00005
NM_153033.4(KCTD7):c.*3836T>G rs370135424 0.00004
NM_153033.5(KCTD7):c.*2822G>A rs533167133 0.00004
NM_153033.5(KCTD7):c.*3404T>C rs1206471914 0.00004
NM_153033.5(KCTD7):c.-55C>T rs927832797 0.00004
NM_153033.5(KCTD7):c.217G>A (p.Glu73Lys) rs772773351 0.00004
NM_153033.5(KCTD7):c.523C>T (p.Arg175Trp) rs568539835 0.00004
NM_153033.5(KCTD7):c.*1293A>G rs886062419 0.00003
NM_153033.5(KCTD7):c.*2746G>C rs886062424 0.00003
NM_153033.5(KCTD7):c.-46C>G rs886062412 0.00003
NM_153033.5(KCTD7):c.-94C>T rs886062410 0.00003
NM_153033.5(KCTD7):c.121G>A (p.Ala41Thr) rs766856368 0.00003
NM_153033.5(KCTD7):c.132G>A (p.Leu44=) rs1057523155 0.00003
NM_153033.5(KCTD7):c.144+19G>A rs998736066 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.315-10T>C rs370881492 0.00003
NM_153033.5(KCTD7):c.400A>G (p.Ile134Val) rs751720071 0.00003
NM_153033.5(KCTD7):c.506G>A (p.Arg169Gln) rs745917176 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.*2163C>T rs375853768 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.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.402C>T (p.Ile134=) rs754958440 0.00002
NM_153033.5(KCTD7):c.431T>A (p.Met144Lys) rs936496800 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.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.618C>G (p.Leu206=) rs930655842 0.00002
NM_153033.5(KCTD7):c.63T>C (p.Ser21=) rs756855275 0.00002
NM_153033.5(KCTD7):c.749C>T (p.Thr250Met) rs760837610 0.00002
NM_153033.5(KCTD7):c.807G>T (p.Lys269Asn) rs927709940 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.*2868C>T rs886062426 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.102G>A (p.Thr34=) rs769985127 0.00001
NM_153033.5(KCTD7):c.107C>T (p.Thr36Met) rs773209854 0.00001
NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro) rs766856368 0.00001
NM_153033.5(KCTD7):c.141G>C (p.Gln47His) rs753563583 0.00001
NM_153033.5(KCTD7):c.144+4C>G rs757018925 0.00001
NM_153033.5(KCTD7):c.144+7G>A rs1786384989 0.00001
NM_153033.5(KCTD7):c.15G>C (p.Thr5=) rs1410806588 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.195C>T (p.Arg65=) rs755849045 0.00001
NM_153033.5(KCTD7):c.209G>A (p.Arg70Gln) rs749483829 0.00001
NM_153033.5(KCTD7):c.216C>T (p.Tyr72=) rs745910052 0.00001
NM_153033.5(KCTD7):c.22G>A (p.Glu8Lys) rs1308286439 0.00001
NM_153033.5(KCTD7):c.239T>C (p.Met80Thr) rs202167686 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.292G>A (p.Asp98Asn) rs1786501974 0.00001
NM_153033.5(KCTD7):c.315-4T>A rs932417352 0.00001
NM_153033.5(KCTD7):c.315-8C>G rs1270571465 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.351A>G (p.Pro117=) rs1456725188 0.00001
NM_153033.5(KCTD7):c.35G>C (p.Arg12Pro) rs763423181 0.00001
NM_153033.5(KCTD7):c.368G>A (p.Arg123Gln) rs764148503 0.00001
NM_153033.5(KCTD7):c.380A>G (p.Lys127Arg) rs765083971 0.00001
NM_153033.5(KCTD7):c.403G>A (p.Gly135Arg) rs781725855 0.00001
NM_153033.5(KCTD7):c.419A>G (p.Gln140Arg) rs778155909 0.00001
NM_153033.5(KCTD7):c.422_424dup (p.Leu141_Glu142insVal) rs747385800 0.00001
NM_153033.5(KCTD7):c.439C>T (p.Leu147=) rs574847246 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.494-14G>A rs1198171302 0.00001
NM_153033.5(KCTD7):c.494-19G>A rs538200300 0.00001
NM_153033.5(KCTD7):c.494-3T>C rs1786646567 0.00001
NM_153033.5(KCTD7):c.505C>T (p.Arg169Trp) rs773227811 0.00001
NM_153033.5(KCTD7):c.517A>C (p.Ile173Leu) rs200907176 0.00001
NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr) rs1440055692 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.602C>G (p.Pro201Arg) rs774050685 0.00001
NM_153033.5(KCTD7):c.612T>C (p.Cys204=) rs772238582 0.00001
NM_153033.5(KCTD7):c.61T>G (p.Ser21Ala) rs753471689 0.00001
NM_153033.5(KCTD7):c.623A>G (p.Asn208Ser) rs762356641 0.00001
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter) rs750811871 0.00001
NM_153033.5(KCTD7):c.632G>T (p.Arg211Leu) rs376332394 0.00001
NM_153033.5(KCTD7):c.639G>A (p.Glu213=) rs1311856627 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.68C>T (p.Ala23Val) rs745360140 0.00001
NM_153033.5(KCTD7):c.699G>A (p.Gly233=) rs201990302 0.00001
NM_153033.5(KCTD7):c.723T>G (p.Val241=) rs771832195 0.00001
NM_153033.5(KCTD7):c.735G>T (p.Leu245=) rs1254720686 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.81T>C (p.Phe27=) rs1007276581 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
NM_153033.5(KCTD7):c.89C>T (p.Pro30Leu) rs890695139 0.00001
NC_000007.13:g.(?_66068499)_(66098288_?)del
NC_000007.13:g.(?_66094032)_(66105401_?)dup
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.*1334T>C rs1786692699
NM_153033.5(KCTD7):c.*1740G>A rs886062420
NM_153033.5(KCTD7):c.*1911C>G rs565110569
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.*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.-116C>T rs551906037
NM_153033.5(KCTD7):c.-145C>G rs886062409
NM_153033.5(KCTD7):c.-170G>T rs191169882
NM_153033.5(KCTD7):c.-87A>C rs886062411
NM_153033.5(KCTD7):c.104_115del (p.Ala35_Ala38del) rs778647590
NM_153033.5(KCTD7):c.109C>G (p.Gln37Glu) rs1786383273
NM_153033.5(KCTD7):c.111G>A (p.Gln37=) rs1786383344
NM_153033.5(KCTD7):c.113C>T (p.Ala38Val) rs373655601
NM_153033.5(KCTD7):c.117G>A (p.Gly39=) rs2116755633
NM_153033.5(KCTD7):c.123G>T (p.Ala41=) rs2116755653
NM_153033.5(KCTD7):c.128C>T (p.Pro43Leu) rs752044252
NM_153033.5(KCTD7):c.129C>T (p.Pro43=) rs1786384122
NM_153033.5(KCTD7):c.12C>G (p.Val4=) rs933610815
NM_153033.5(KCTD7):c.130dup (p.Leu44fs) rs2535233194
NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter) rs2116755694
NM_153033.5(KCTD7):c.143A>G (p.Glu48Gly) rs2535233250
NM_153033.5(KCTD7):c.144+15G>A rs2535233316
NM_153033.5(KCTD7):c.144+18G>A rs2535233338
NM_153033.5(KCTD7):c.144+21_144+27dup rs1434023795
NM_153033.5(KCTD7):c.144+3A>G rs1584392905
NM_153033.5(KCTD7):c.144+4C>A rs757018925
NM_153033.5(KCTD7):c.144+8G>A rs778676871
NM_153033.5(KCTD7):c.144+8GGCGGGC[3] rs1313339325
NM_153033.5(KCTD7):c.144+9del rs1320825927
NM_153033.5(KCTD7):c.144G>A (p.Glu48=) rs2116755708
NM_153033.5(KCTD7):c.145-17T>A rs2116763618
NM_153033.5(KCTD7):c.145-19C>G rs543103689
NM_153033.5(KCTD7):c.145-19C>T rs543103689
NM_153033.5(KCTD7):c.145-2A>G rs1554397774
NM_153033.5(KCTD7):c.145-5del rs1179207904
NM_153033.5(KCTD7):c.145-6T>C rs2535241025
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.14C>G (p.Thr5Arg) rs1346070646
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) rs1786497147
NM_153033.5(KCTD7):c.177G>T (p.Gly59=) rs2535241119
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.18G>C (p.Gly6=) rs886062413
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=) rs2116763829
NM_153033.5(KCTD7):c.207_214del (p.Cys71fs) rs2535241170
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp) rs867319899
NM_153033.5(KCTD7):c.224C>T (p.Thr75Ile) rs2535241203
NM_153033.5(KCTD7):c.231G>T (p.Leu77Phe) rs1786499355
NM_153033.5(KCTD7):c.235G>A (p.Ala79Thr) rs2535241226
NM_153033.5(KCTD7):c.238A>G (p.Met80Val) rs1554397798
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp) rs754476100
NM_153033.5(KCTD7):c.252G>A (p.Arg84=) rs2535241290
NM_153033.5(KCTD7):c.26C>T (p.Pro9Leu)
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=) rs1291973118
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=) rs2535241375
NM_153033.5(KCTD7):c.295C>A (p.Arg99=) rs267607199
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 rs556693792
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 rs2535249507
NM_153033.5(KCTD7):c.315-16T>C
NM_153033.5(KCTD7):c.315-17C>T rs2535249493
NM_153033.5(KCTD7):c.315-32_315-17del rs758037249
NM_153033.5(KCTD7):c.315-4T>C rs932417352
NM_153033.5(KCTD7):c.315-5C>G rs2535249569
NM_153033.5(KCTD7):c.315-9C>T rs746772828
NM_153033.5(KCTD7):c.317A>T (p.Asp106Val)
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=) rs748562227
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=) rs2535249646
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=) rs1003054690
NM_153033.5(KCTD7):c.346C>T (p.Leu116Phe) rs2116773826
NM_153033.5(KCTD7):c.35G>T (p.Arg12Leu) rs763423181
NM_153033.5(KCTD7):c.362G>A (p.Arg121His) rs199624315
NM_153033.5(KCTD7):c.363T>C (p.Arg121=) rs2535249719
NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter) rs367608044
NM_153033.5(KCTD7):c.371C>G (p.Ala124Gly) rs1786632902
NM_153033.5(KCTD7):c.385G>A (p.Ala129Thr) rs2535249763
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=) rs754958440
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.428A>G (p.Asn143Ser) rs1786634540
NM_153033.5(KCTD7):c.440T>C (p.Leu147Pro) rs775109352
NM_153033.5(KCTD7):c.448G>A (p.Glu150Lys) rs776661654
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.45C>A (p.Asp15Glu) rs751937729
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.46G>A (p.Gly16Ser) rs1450028260
NM_153033.5(KCTD7):c.46G>T (p.Gly16Cys) rs1450028260
NM_153033.5(KCTD7):c.472G>A (p.Gly158Arg) rs2535250088
NM_153033.5(KCTD7):c.481C>T (p.Pro161Ser) rs2535250108
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 rs1234714410
NM_153033.5(KCTD7):c.493+2_493+6del rs2116774137
NM_153033.5(KCTD7):c.493+3G>C rs2535250147
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) rs747689300
NM_153033.5(KCTD7):c.501G>C (p.Leu167Phe) rs2535251116
NM_153033.5(KCTD7):c.514G>T (p.Glu172Ter)
NM_153033.5(KCTD7):c.518T>A (p.Ile173Asn) rs2535251142
NM_153033.5(KCTD7):c.51C>T (p.Ala17=) rs1584392789
NM_153033.5(KCTD7):c.523C>G (p.Arg175Gly) rs568539835
NM_153033.5(KCTD7):c.528G>C (p.Leu176=) rs2535251180
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.53T>A (p.Met18Lys) rs777578179
NM_153033.5(KCTD7):c.549C>G (p.Ala183=) rs1786648622
NM_153033.5(KCTD7):c.551G>A (p.Arg184His) rs747676224
NM_153033.5(KCTD7):c.564C>G (p.Leu188=) rs769365291
NM_153033.5(KCTD7):c.569T>C (p.Val190Ala) rs2535251294
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.60C>T (p.Ser20=)
NM_153033.5(KCTD7):c.611G>A (p.Cys204Tyr) rs1786649821
NM_153033.5(KCTD7):c.616C>A (p.Leu206Ile) rs140600524
NM_153033.5(KCTD7):c.628C>G (p.Leu210Val) rs1270153985
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.642G>C (p.Arg214=) rs2535251484
NM_153033.5(KCTD7):c.64G>A (p.Asp22Asn) rs1390049689
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) rs2116775477
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.69C>G (p.Ala23=) rs1584392832
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=) rs556805454
NM_153033.5(KCTD7):c.71A>G (p.Glu24Gly) rs2116755505
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=) rs146540578
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.77A>G (p.Asp26Gly) rs2535233084
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.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.82C>T (p.Leu28=) rs2116755532
NM_153033.5(KCTD7):c.834G>A (p.Lys278=) rs746774522
NM_153033.5(KCTD7):c.835_840del (p.Arg279_Pro280del) rs2535251918
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
NM_153033.5(KCTD7):c.867G>A (p.Trp289Ter)
NM_153033.5(KCTD7):c.98_109del (p.Pro33_Thr36del) rs753399965
NM_153033.5(KCTD7):c.99G>A (p.Pro33=)
NM_153033.5(KCTD7):c.9A>G (p.Val3=) rs2535232906

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.