ClinVar Miner

List of variants in gene KCNMA1 reported as likely benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (88):
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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NM_001161352.2(KCNMA1):c.*1100C>T rs199706896
NM_001161352.2(KCNMA1):c.*113dup rs144100057
NM_001161352.2(KCNMA1):c.*1243T>C rs141466507
NM_001161352.2(KCNMA1):c.*1288A>T rs78082918
NM_001161352.2(KCNMA1):c.*1315C>T
NM_001161352.2(KCNMA1):c.*1765T>C rs80189498
NM_001161352.2(KCNMA1):c.*2138C>T
NM_001161352.2(KCNMA1):c.*2183C>T rs201067003
NM_001161352.2(KCNMA1):c.*321C>T rs7078702
NM_001161352.2(KCNMA1):c.*634C>G rs74139846
NM_001161352.2(KCNMA1):c.*690C>A rs145289064
NM_001161352.2(KCNMA1):c.*932G>T rs76644618
NM_001161352.2(KCNMA1):c.-101_-96dup rs545094311
NM_001161352.2(KCNMA1):c.1086C>T (p.Thr362=) rs1564595933
NM_001161352.2(KCNMA1):c.117_119CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117_119CTC[6] (p.Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117_119CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1218A>G (p.Gly406=) rs755284666
NM_001161352.2(KCNMA1):c.1224-8C>T rs777700626
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=) rs139515379
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=) rs147378590
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.1413C>A (p.Leu471=) rs903717178
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly6_Gly7insSer) rs780558929
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) rs149647577
NM_001161352.2(KCNMA1):c.1653C>T (p.Leu551=) rs768361935
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=) rs76141718
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993
NM_001161352.2(KCNMA1):c.1919G>A (p.Arg640Gln) rs80266334
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2070A>T (p.Ile690=) rs368366851
NM_001161352.2(KCNMA1):c.207C>T (p.Leu69=) rs780686705
NM_001161352.2(KCNMA1):c.2280G>A (p.Gln760=) rs544095112
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=) rs748427000
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) rs142770262
NM_001161352.2(KCNMA1):c.2577C>T (p.Asn859=) rs770702438
NM_001161352.2(KCNMA1):c.2693A>G (p.Lys898Arg) rs200714367
NM_001161352.2(KCNMA1):c.2748C>T (p.Asn916=) rs766016095
NM_001161352.2(KCNMA1):c.2811G>A (p.Ser937=) rs199970585
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=) rs113441525
NM_001161352.2(KCNMA1):c.2847C>T (p.Asn949=) rs745890036
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) rs143599540
NM_001161352.2(KCNMA1):c.2994C>T (p.Asn998=) rs991345002
NM_001161352.2(KCNMA1):c.3017-5T>C rs202032522
NM_001161352.2(KCNMA1):c.3021C>T (p.Asn1007=) rs369363787
NM_001161352.2(KCNMA1):c.3030T>C (p.Asn1010=) rs1590247904
NM_001161352.2(KCNMA1):c.3072A>G (p.Thr1024=) rs774352020
NM_001161352.2(KCNMA1):c.3093C>G (p.Pro1031=) rs777115771
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=) rs2227913
NM_001161352.2(KCNMA1):c.3148-8T>C rs79155047
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=) rs779632278
NM_001161352.2(KCNMA1):c.3337T>C (p.Leu1113=) rs756169265
NM_001161352.2(KCNMA1):c.3441C>G (p.Thr1147=) rs765051720
NM_001161352.2(KCNMA1):c.3480G>A (p.Pro1160=) rs202172473
NM_001161352.2(KCNMA1):c.348C>G (p.Thr116=) rs200178895
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661
NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=) rs201924445
NM_001161352.2(KCNMA1):c.363C>T (p.Cys121=) rs141758134
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) rs563967757
NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln) rs75843969
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=) rs61736948
NM_001161352.2(KCNMA1):c.603-5A>G rs907422214
NM_001161352.2(KCNMA1):c.697-4C>T rs200844223
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241
NM_001161352.2(KCNMA1):c.783T>C (p.Ser261=) rs145604644
NM_001161352.2(KCNMA1):c.884+8G>A rs777197385
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097
NM_001161352.2(KCNMA1):c.993C>T (p.Phe331=) rs1596161285

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