ClinVar Miner

List of variants reported as likely benign for childhood-onset epilepsy syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_018100.4(EFHC1):c.*3144T>A rs3789772 0.70161
NM_020361.4(CPA6):c.-269G>A rs2553663 0.65179
NM_018100.4(EFHC1):c.*3406T>C rs6919266 0.36710
NM_018100.4(EFHC1):c.*2972C>G rs9367485 0.18894
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.*1490C>A rs2397092 0.18321
NM_018100.4(EFHC1):c.*2419A>G rs9474228 0.17191
NM_004287.5(GOSR2):c.*2292C>T rs79673308 0.10999
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_004287.5(GOSR2):c.*1067G>A rs11874 0.08663
NM_018100.4(EFHC1):c.*3192G>A rs3789771 0.08613
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_000726.5(CACNB4):c.*4771G>A rs80248494 0.03690
NM_004287.5(GOSR2):c.*1062A>T rs16941324 0.03601
NM_004287.5(GOSR2):c.*1655A>G rs116123534 0.03006
NM_020361.5(CPA6):c.*328A>G rs3395 0.02890
NM_018100.4(EFHC1):c.*2164G>A rs59722297 0.02831
NM_000726.5(CACNB4):c.*1656T>C rs62174451 0.02784
NM_004287.5(GOSR2):c.*2342A>G rs61745471 0.01873
NM_000726.5(CACNB4):c.*2885T>C rs116457978 0.01717
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_000726.5(CACNB4):c.*2163G>A rs80306085 0.01698
NM_001134407.3(GRIN2A):c.*8536_*8537insC rs59371229 0.01284
NM_001161352.2(KCNMA1):c.*321C>T rs7078702 0.01265
NM_000100.4(CSTB):c.*93A>G rs9446 0.01254
NM_198859.4(PRICKLE2):c.-252G>C rs142388795 0.01230
NM_004287.5(GOSR2):c.*2293G>A rs77706742 0.01200
NM_000726.5(CACNB4):c.*2778A>C rs114659375 0.01105
NM_000726.5(CACNB4):c.*1459T>C rs114958916 0.01102
NM_000726.5(CACNB4):c.*865G>A rs75365487 0.00988
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568 0.00917
NM_000726.5(CACNB4):c.*2837A>G rs138327808 0.00888
NM_001161352.2(KCNMA1):c.*932G>T rs76644618 0.00873
NM_198904.4(GABRG2):c.*794A>G rs73316347 0.00873
NM_000726.5(CACNB4):c.*528A>T rs111999910 0.00814
NM_198859.4(PRICKLE2):c.*3489G>A rs143062140 0.00811
NM_000100.4(CSTB):c.*69A>G rs142767585 0.00798
NM_000726.5(CACNB4):c.*5372T>C rs150406641 0.00778
NM_000726.5(CACNB4):c.*2210A>G rs114341631 0.00772
NM_000726.5(CACNB4):c.*2695G>T rs74894311 0.00768
NM_001161352.2(KCNMA1):c.*634C>G rs74139846 0.00747
NM_198859.4(PRICKLE2):c.*3852C>A rs153731 0.00717
NM_000726.5(CACNB4):c.*4773A>G rs113408437 0.00714
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993 0.00682
NM_000726.5(CACNB4):c.*1284T>G rs112989362 0.00674
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559 0.00605
NM_005097.4(LGI1):c.*215T>C rs17502662 0.00589
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
NM_001161352.2(KCNMA1):c.*1765T>C rs80189498 0.00532
NM_198904.4(GABRG2):c.717A>G (p.Gln239=) rs78261481 0.00489
NM_020361.5(CPA6):c.*242T>C rs527673781 0.00486
NM_000100.4(CSTB):c.67-3T>C rs6383 0.00473
NM_000726.5(CACNB4):c.*2391T>G rs143821304 0.00454
NM_198904.4(GABRG2):c.*343A>G rs41275341 0.00432
NM_000742.4(CHRNA2):c.*1873A>G rs146191907 0.00387
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00372
NM_198904.4(GABRG2):c.*385G>A rs185169107 0.00360
NM_000726.5(CACNB4):c.*2729G>A rs144329745 0.00357
NM_198586.3(NHLRC1):c.*320G>A rs79197160 0.00352
NM_000726.5(CACNB4):c.*6140G>T rs74944346 0.00321
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00314
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097 0.00314
NM_000726.5(CACNB4):c.*5855A>C rs118093432 0.00312
NM_001161352.2(KCNMA1):c.*690C>A rs145289064 0.00312
NM_153033.5(KCTD7):c.*3612G>A rs35633983 0.00306
NM_000726.5(CACNB4):c.*1942T>C rs139629003 0.00300
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678 0.00300
NM_020361.5(CPA6):c.975A>G (p.Ala325=) rs138313759 0.00299
NM_198586.3(NHLRC1):c.*875T>C rs72839174 0.00296
NM_000726.5(CACNB4):c.*1909C>T rs113319414 0.00256
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095 0.00228
NM_153033.5(KCTD7):c.*1619A>G rs115778754 0.00220
NM_198859.4(PRICKLE2):c.*4057G>A rs140931283 0.00204
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_018100.4(EFHC1):c.*233T>A rs538486876 0.00193
NM_000726.5(CACNB4):c.*5622C>T rs187012852 0.00191
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) rs146538069 0.00190
NM_001161352.2(KCNMA1):c.*2183C>T rs201067003 0.00188
NM_153033.4(KCTD7):c.*3991G>C rs147205609 0.00168
NM_198904.4(GABRG2):c.*261G>A rs148001179 0.00153
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 0.00151
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875 0.00143
NM_020361.5(CPA6):c.1077G>A (p.Gln359=) rs143536122 0.00132
NM_000726.5(CACNB4):c.*1093T>C rs142139235 0.00122
NM_000726.5(CACNB4):c.*2188T>G rs548234328 0.00122
NM_000742.3(CHRNA2):c.*1882C>A rs570954015 0.00121
NM_198904.4(GABRG2):c.*1636T>C rs551794496 0.00113
NM_198904.4(GABRG2):c.*2095C>G rs138297122 0.00105
NM_000726.5(CACNB4):c.*1814G>A rs181447432 0.00103
NM_001134407.3(GRIN2A):c.*2586C>T rs181616477 0.00102
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694 0.00097
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_000726.5(CACNB4):c.*4969G>A rs537140595 0.00076
NM_000726.5(CACNB4):c.*1110C>A rs147608603 0.00074
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_198586.3(NHLRC1):c.*720T>C rs141863990 0.00071
NM_153033.5(KCTD7):c.*1839T>C rs137946765 0.00052
NM_001122752.2(SERPINI1):c.-19+117A>G rs145045884 0.00043
NM_000726.5(CACNB4):c.*4976T>C rs191424720 0.00042
NM_000726.5(CACNB4):c.*5562A>G rs192309143 0.00042
NM_153033.5(KCTD7):c.*221G>T rs151151235 0.00037
NM_000726.5(CACNB4):c.*4131A>G rs373381936 0.00036
NM_198904.4(GABRG2):c.*1518A>G rs567153845 0.00035
NM_001161352.2(KCNMA1):c.*2138C>T rs77051509 0.00030
NM_001134407.3(GRIN2A):c.83A>C (p.Glu28Ala) rs146839931 0.00026
NM_001161352.2(KCNMA1):c.*1100C>T rs199706896 0.00024
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906 0.00021
NM_198859.4(PRICKLE2):c.*133G>A rs370569305 0.00021
NM_000726.5(CACNB4):c.*4570T>C rs549017506 0.00019
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_001161352.2(KCNMA1):c.*1315C>T rs147816527 0.00018
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) rs142770262 0.00017
NM_153033.5(KCTD7):c.*2137T>C rs138958447 0.00017
NM_198859.4(PRICKLE2):c.*4354C>G rs186186236 0.00017
NM_198904.4(GABRG2):c.768C>T (p.Ser256=) rs201672465 0.00015
NM_000726.5(CACNB4):c.*1009C>T rs367723727 0.00014
NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=) rs368200727 0.00014
NM_153033.5(KCTD7):c.-49C>T rs374505432 0.00013
NM_000726.5(CACNB4):c.*3475A>T rs567549082 0.00012
NM_000726.5(CACNB4):c.*1910_*1911del rs372743707 0.00011
NM_001134407.3(GRIN2A):c.1007+13T>G rs199862009 0.00009
NM_001134407.3(GRIN2A):c.419C>T (p.Pro140Leu) rs142566406 0.00007
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr) rs757464009 0.00006
NM_001134407.3(GRIN2A):c.2760A>G (p.Arg920=) rs80138441 0.00006
NM_000726.5(CACNB4):c.*5433A>G rs563567053 0.00004
NM_000726.5(CACNB4):c.*6183A>G rs185830609 0.00004
NM_000742.4(CHRNA2):c.1123C>G (p.Pro375Ala) rs746613509 0.00004
NM_001134407.3(GRIN2A):c.3138A>G (p.Leu1046=) rs773244936 0.00004
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084 0.00004
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190 0.00004
NM_198859.4(PRICKLE2):c.*2633G>A rs140420417 0.00003
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu) rs781486255 0.00002
NM_001161352.2(KCNMA1):c.*1243T>C rs141466507 0.00002
NM_198859.4(PRICKLE2):c.*2269T>C rs550841859 0.00002
NM_198859.4(PRICKLE2):c.*3178G>C rs528929996 0.00002
NM_000726.5(CACNB4):c.177G>A (p.Pro59=) rs552093496 0.00001
NM_000726.5(CACNB4):c.521+9C>T rs747291810 0.00001
NM_198904.4(GABRG2):c.*797G>T rs118064447 0.00001
NM_000726.4(CACNB4):c.-70G>A rs183873853
NM_000726.5(CACNB4):c.*3668T>C rs543493236
NM_000726.5(CACNB4):c.*443A>G rs538829019
NM_000726.5(CACNB4):c.*787del rs560958457
NM_000742.4(CHRNA2):c.*1286del rs199764226
NM_001134407.3(GRIN2A):c.*7650_*7654del rs537062402
NM_001161352.2(KCNMA1):c.*113dup rs144100057
NM_001161352.2(KCNMA1):c.*1288A>T rs78082918
NM_001161352.2(KCNMA1):c.-101_-96dup rs545094311
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_004287.5(GOSR2):c.*288_*296dup rs376212419
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_005025.4(SERPINI1):c.*256dupT rs547381979
NM_005097.3(LGI1):c.-280G>C rs74150339
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
NM_018100.4(EFHC1):c.*1025AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025AT[9] rs59794069
NM_018100.4(EFHC1):c.*1325dup rs35994917
NM_018100.4(EFHC1):c.*392A>C rs9463792
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_153026.3(PRICKLE1):c.-122CGCAGCCC[3] rs561368128
NM_198904.4(GABRG2):c.*441T>C rs188825588

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