ClinVar Miner

List of variants studied for Progressive myoclonic epilepsy type 3 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 100
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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.*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_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.*1404G>A rs1007951856 0.00015
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.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.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_153033.4(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.*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.145T>C (p.Phe49Leu) rs559020294 0.00003
NM_153033.5(KCTD7):c.400A>G (p.Ile134Val) rs751720071 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.369A>C (p.Arg123=) rs753658170 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.*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.181C>T (p.His61Tyr) rs368018261 0.00001
NM_153033.5(KCTD7):c.239T>C (p.Met80Thr) rs202167686 0.00001
NM_153033.5(KCTD7):c.403G>A (p.Gly135Arg) rs781725855 0.00001
NM_153033.5(KCTD7):c.524G>A (p.Arg175Gln) rs758709078 0.00001
NM_153033.5(KCTD7):c.68C>T (p.Ala23Val) rs745360140 0.00001
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.18G>C (p.Gly6=) rs886062413
NM_153033.5(KCTD7):c.291C>T (p.Ile97=) rs769023482
NM_153033.5(KCTD7):c.727G>A (p.Asp243Asn) rs2116775565

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