ClinVar Miner

List of variants in gene KCNMA1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.3016+1137A>C rs2395443 0.99879
NM_001161352.2(KCNMA1):c.1223+289G>A rs1871066 0.92680
NM_001161352.2(KCNMA1):c.2360+63T>C rs2288837 0.81911
NM_001161352.2(KCNMA1):c.2484+249C>G rs3816025 0.79865
NM_001161352.2(KCNMA1):c.2485-178G>A rs1907715 0.79407
NM_001161352.2(KCNMA1):c.3343-275A>G rs2288839 0.78794
NM_001161352.2(KCNMA1):c.3016+1054C>A rs2395444 0.67163
NM_001161352.2(KCNMA1):c.3343-72G>A rs2288840 0.64863
NM_001161352.2(KCNMA1):c.2015+37C>T rs16934182 0.55282
NC_000010.11:g.77637916G>A rs2720006 0.48874
NM_001161352.2(KCNMA1):c.2484+2001T>C rs7086746 0.43529
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_001161352.2(KCNMA1):c.809-137T>C rs7907270 0.37923
NM_001161352.2(KCNMA1):c.808+164T>C rs12767900 0.26841
NM_001161352.2(KCNMA1):c.2485-79C>T rs12770084 0.24013
NM_001161352.2(KCNMA1):c.3016+554G>A rs11001928 0.22831
NM_001161352.2(KCNMA1):c.696+281T>C rs34536108 0.22245
NM_001161352.2(KCNMA1):c.2484+291C>T rs12773532 0.21778
NM_001161352.2(KCNMA1):c.2485-191A>G rs12771435 0.21187
NM_001161352.2(KCNMA1):c.378+560G>A rs12217221 0.16780
NM_001161352.2(KCNMA1):c.3461+237C>T rs11001919 0.16342
NM_001161352.2(KCNMA1):c.1335-254A>G rs12354965 0.13167
NM_001161352.2(KCNMA1):c.960+157C>A rs1347543 0.10439
NM_001161352.2(KCNMA1):c.1860-225A>G rs56176748 0.06047
NM_001161352.2(KCNMA1):c.1594-60A>G rs2274416 0.05856
NM_001161352.2(KCNMA1):c.1524-76G>T rs45495698 0.05829
NM_001161352.2(KCNMA1):c.603-123del rs150813973 0.05581
NM_001161352.2(KCNMA1):c.884+195T>C rs77231005 0.05340
NM_001161352.2(KCNMA1):c.1224-170G>A rs2296676 0.05322
NM_001161352.2(KCNMA1):c.3147+149A>G rs16934014 0.04722
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251 0.03213
NM_001161352.2(KCNMA1):c.378+302G>A rs76903211 0.02905
NM_001161352.2(KCNMA1):c.2016-208C>A rs73288598 0.02900
NM_001161352.2(KCNMA1):c.602+59T>C rs45602845 0.02573
NM_001161352.2(KCNMA1):c.1224-165T>A rs61586527 0.02194
NM_001161352.2(KCNMA1):c.960+48C>A rs12355548 0.02175
NM_001161352.2(KCNMA1):c.1224-52G>C rs11002011 0.02160
NM_001161352.2(KCNMA1):c.3016+83T>C rs75628904 0.01877
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.2361-215G>C rs77994616 0.01713
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568 0.00917
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.3240C>T (p.Asn1080=) rs45586138 0.00372
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097 0.00314
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009 0.00285
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504 0.00032
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216 0.00021
GRCh37/hg19 10q22.3(chr10:79187957-79209190)x1
GRCh37/hg19 10q22.3(chr10:79280893-79342926)x1
NM_001161352.2(KCNMA1):c.-101_-96dup rs545094311
NM_001161352.2(KCNMA1):c.1132-256G>T rs2574790
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1223+35C>T rs45459294
NM_001161352.2(KCNMA1):c.1223+71_1223+73del rs35119991
NM_001161352.2(KCNMA1):c.1223+72_1223+73del rs35119991
NM_001161352.2(KCNMA1):c.1334+146G>A rs12251114
NM_001161352.2(KCNMA1):c.1441-114dup rs34592624
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.1593+78AC[16] rs68133946
NM_001161352.2(KCNMA1):c.1593+78AC[18] rs68133946
NM_001161352.2(KCNMA1):c.1593+78AC[19] rs68133946
NM_001161352.2(KCNMA1):c.1593+78AC[20] rs68133946
NM_001161352.2(KCNMA1):c.1593+78AC[21] rs68133946
NM_001161352.2(KCNMA1):c.1593+78AC[22] rs68133946
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.1928+2563_1928+2582del rs146836316
NM_001161352.2(KCNMA1):c.1928+2565_1928+2582del rs199665732
NM_001161352.2(KCNMA1):c.1928+2567_1928+2582del rs1326731759
NM_001161352.2(KCNMA1):c.1928+2575_1928+2582del rs1234471076
NM_001161352.2(KCNMA1):c.1928+2577_1928+2582del rs1275639354
NM_001161352.2(KCNMA1):c.1928+2580AC[4] rs199865838
NM_001161352.2(KCNMA1):c.2092+3944_2092+3955del rs67958938
NM_001161352.2(KCNMA1):c.2266+206G>A rs11001963
NM_001161352.2(KCNMA1):c.2267-263del rs10563488
NM_001161352.2(KCNMA1):c.2267-264_2267-263del rs10563488
NM_001161352.2(KCNMA1):c.2267-266_2267-263del rs10563488
NM_001161352.2(KCNMA1):c.379-103A>G rs11002158
NM_001161352.2(KCNMA1):c.379-86C>G rs596832

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