ClinVar Miner

List of variants in gene KCNMA1 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.*1957C>T rs7073015 0.82683
NM_001161352.2(KCNMA1):c.*1571C>T rs10762733 0.49921
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_001161352.2(KCNMA1):c.*488C>A rs2116830 0.13876
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251 0.03213
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280 0.01852
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228 0.01731
NM_001161352.2(KCNMA1):c.*321C>T rs7078702 0.01265
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568 0.00917
NM_001161352.2(KCNMA1):c.*932G>T rs76644618 0.00873
NM_001161352.2(KCNMA1):c.*634C>G rs74139846 0.00747
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993 0.00682
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559 0.00605
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_001161352.2(KCNMA1):c.*1765T>C rs80189498 0.00532
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00372
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097 0.00314
NM_001161352.2(KCNMA1):c.*690C>A rs145289064 0.00312
NM_001161352.2(KCNMA1):c.*394C>A rs41281550 0.00287
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009 0.00285
NM_001161352.2(KCNMA1):c.*2183C>T rs201067003 0.00188
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 0.00151
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) rs75207686 0.00142
NM_001161352.2(KCNMA1):c.*2325T>A rs41281548 0.00103
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694 0.00097
NM_001161352.2(KCNMA1):c.*1284T>C rs200045921 0.00066
NM_001161352.2(KCNMA1):c.3147+15T>C rs145048715 0.00053
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297 0.00044
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374 0.00041
NM_001161352.2(KCNMA1):c.*2138C>T rs77051509 0.00030
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272 0.00030
NM_001161352.2(KCNMA1):c.*115C>A rs557364455 0.00029
NM_001161352.2(KCNMA1):c.*1006G>A rs200955430 0.00026
NM_001161352.2(KCNMA1):c.*1100C>T rs199706896 0.00024
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216 0.00021
NM_001161352.2(KCNMA1):c.*862A>G rs199819984 0.00019
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271 0.00019
NM_001161352.2(KCNMA1):c.37G>A (p.Gly13Ser) rs1568036609 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_001161352.2(KCNMA1):c.*1529C>T rs200493344 0.00014
NM_001161352.2(KCNMA1):c.*497A>G rs200933957 0.00009
NM_001161352.2(KCNMA1):c.-25C>T rs373677230 0.00009
NM_001161352.2(KCNMA1):c.1749+6G>A rs373648078 0.00009
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=) rs377596790 0.00009
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=) rs200741233 0.00009
NM_001161352.2(KCNMA1):c.884+15G>A rs200196183 0.00009
NM_002247.3(KCNMA1):c.-175C>A rs184782926 0.00008
NM_001161352.2(KCNMA1):c.*1202C>A rs200435801 0.00006
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124 0.00006
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408 0.00005
NM_001161352.2(KCNMA1):c.*1633C>T rs201201425 0.00004
NM_001161352.2(KCNMA1):c.*50C>T rs200326097 0.00004
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397 0.00004
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) rs370862113 0.00004
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) rs78544619 0.00004
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala) rs767957728 0.00004
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190 0.00004
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met) rs376264061 0.00004
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241 0.00004
NM_001161352.2(KCNMA1):c.*1887G>A rs886047261 0.00003
NM_001161352.2(KCNMA1):c.-104G>A rs192912320 0.00003
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) rs200440843 0.00003
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270 0.00003
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) rs563967757 0.00003
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp) rs148648986 0.00003
NM_001161352.2(KCNMA1):c.*1243T>C rs141466507 0.00002
NM_001161352.2(KCNMA1):c.*2326C>A rs199764115 0.00002
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=) rs766964098 0.00002
NM_001161352.2(KCNMA1):c.*1025G>C rs886047263 0.00001
NM_001161352.2(KCNMA1):c.*129T>G rs201808440 0.00001
NM_001161352.2(KCNMA1):c.*15G>A rs200873312 0.00001
NM_001161352.2(KCNMA1):c.*21G>A rs774699192 0.00001
NM_001161352.2(KCNMA1):c.*2226A>G rs560236547 0.00001
NM_001161352.2(KCNMA1):c.*2278G>A rs886047257 0.00001
NM_001161352.2(KCNMA1):c.*531C>T rs748726029 0.00001
NM_001161352.2(KCNMA1):c.*834T>C rs543740279 0.00001
NM_001161352.2(KCNMA1):c.1131+13C>A rs886047268 0.00001
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) rs199572145 0.00001
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr) rs202213336 0.00001
NM_001161352.2(KCNMA1):c.1860-4G>T rs763267420 0.00001
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=) rs200166976 0.00001
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) rs768061213 0.00001
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) rs200045097 0.00001
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661 0.00001
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=) rs1445232499 0.00001
NM_001161352.2(KCNMA1):c.602+12A>G rs199818612 0.00001
NM_001161352.2(KCNMA1):c.*1022TTTG[1] rs755720081
NM_001161352.2(KCNMA1):c.*1131C>A rs2036799787
NM_001161352.2(KCNMA1):c.*113dup rs144100057
NM_001161352.2(KCNMA1):c.*1165C>T rs886047262
NM_001161352.2(KCNMA1):c.*1288A>T rs78082918
NM_001161352.2(KCNMA1):c.*1507G>A rs1430842020
NM_001161352.2(KCNMA1):c.*1739G>T rs184468198
NM_001161352.2(KCNMA1):c.*1935A>G rs886047260
NM_001161352.2(KCNMA1):c.*1937T>G rs886047259
NM_001161352.2(KCNMA1):c.*2015TA[7] rs562756117
NM_001161352.2(KCNMA1):c.*2117G>T rs886047258
NM_001161352.2(KCNMA1):c.*223A>G rs886047267
NM_001161352.2(KCNMA1):c.*2373dup rs552322812
NM_001161352.2(KCNMA1):c.*411GTT[4] rs879619415
NM_001161352.2(KCNMA1):c.*429CTTT[2] rs886047266
NM_001161352.2(KCNMA1):c.*539T>C rs886047265
NM_001161352.2(KCNMA1):c.*570T>C rs886047264
NM_001161352.2(KCNMA1):c.*69A>G rs2037466690
NM_001161352.2(KCNMA1):c.-101_-96dup rs545094311
NM_001161352.2(KCNMA1):c.-104_-96dup rs1555529241
NM_001161352.2(KCNMA1):c.-116GGC[7] rs781056387
NM_001161352.2(KCNMA1):c.-131C>T rs575507832
NM_001161352.2(KCNMA1):c.-57G>T rs886047271
NM_001161352.2(KCNMA1):c.1131+11dup rs545073914
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.1593+11G>T rs199674898
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_001161352.2(KCNMA1):c.31AGC[1] (p.Ser12del) rs757636988
NM_001161352.2(KCNMA1):c.49G>C (p.Gly17Arg) rs886047269

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