ClinVar Miner

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

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_002247.3(KCNMA1):c.*113dupT rs144100057
NM_002247.3(KCNMA1):c.*1288A>T rs78082918
NM_002247.3(KCNMA1):c.*1571C>T rs10762733
NM_002247.3(KCNMA1):c.*1765T>C rs80189498
NM_002247.3(KCNMA1):c.*1957C>T rs7073015
NM_002247.3(KCNMA1):c.*321C>T rs7078702
NM_002247.3(KCNMA1):c.*488C>A rs2116830
NM_002247.3(KCNMA1):c.*634C>G rs74139846
NM_002247.3(KCNMA1):c.*932G>T rs76644618
NM_002247.3(KCNMA1):c.-101_-96dupGGCAGC rs545094311
NM_002247.3(KCNMA1):c.1218A>G (p.Gly406=) rs755284666
NM_002247.3(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_002247.3(KCNMA1):c.132_137delCTCCTC (p.Ser59_Ser60del) rs572827902
NM_002247.3(KCNMA1):c.135_137delCTC (p.Ser60del) rs572827902
NM_002247.3(KCNMA1):c.135_137dupCTC (p.Ser60_Val61insSer) rs572827902
NM_002247.3(KCNMA1):c.1413C>A (p.Leu471=) rs903717178
NM_002247.3(KCNMA1):c.1578G>T (p.Leu526=) rs74140280
NM_002247.3(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_002247.3(KCNMA1):c.1737G>A (p.Arg579=) rs76141718
NM_002247.3(KCNMA1):c.1749+11G>A rs116546993
NM_002247.3(KCNMA1):c.2015+7G>A rs78670694
NM_002247.3(KCNMA1):c.2070A>T (p.Ile690=) rs368366851
NM_002247.3(KCNMA1):c.2217T>C (p.Asp739=) rs77280228
NM_002247.3(KCNMA1):c.2374G>A (p.Val792Ile) rs142770262
NM_002247.3(KCNMA1):c.2391C>T (p.Ile797=) rs2229009
NM_002247.3(KCNMA1):c.2536-8T>C rs78672251
NM_002247.3(KCNMA1):c.2595C>T (p.Cys865=) rs200241954
NM_002247.3(KCNMA1):c.2664G>A (p.Ala888=) rs113441525
NM_002247.3(KCNMA1):c.2673C>T (p.Asn891=) rs745890036
NM_002247.3(KCNMA1):c.2919C>G (p.Pro973=) rs777115771
NM_002247.3(KCNMA1):c.2970C>T (p.Ser990=) rs2227913
NM_002247.3(KCNMA1):c.2976G>A (p.Thr992=) rs75116272
NM_002247.3(KCNMA1):c.3021C>T (p.Thr1007=) rs45527834
NM_002247.3(KCNMA1):c.3144C>T (p.Leu1048=) rs779632278
NM_002247.3(KCNMA1):c.3267C>G (p.Thr1089=) rs765051720
NM_002247.3(KCNMA1):c.3476A>G (p.Asn1159Ser) rs563967757
NM_002247.3(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_002247.3(KCNMA1):c.414G>A (p.Ala138=) rs61736948
NM_002247.3(KCNMA1):c.498G>A (p.Ala166=) rs201765039
NM_002247.3(KCNMA1):c.603-6T>C rs201637862
NM_002247.3(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_002247.3(KCNMA1):c.697-4C>T rs200844223
NM_002247.3(KCNMA1):c.771C>T (p.Pro257=) rs367642241
NM_002247.3(KCNMA1):c.783T>C (p.Ser261=) rs145604644
NM_002247.3(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_002247.3(KCNMA1):c.945C>T (p.Ala315=) rs79713097

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