ClinVar Miner

List of variants in gene KCNMA1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
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.*394C>A rs41281550 0.00287
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.144T>C (p.Ser48=) rs200608314 0.00060
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374 0.00041
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504 0.00032
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=) rs76141718 0.00026
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271 0.00019
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=) rs143562140 0.00018
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) rs142770262 0.00017
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=) rs139309224 0.00012
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=) rs748427000 0.00011
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=) rs61736948 0.00010
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) rs200773083 0.00008
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=) rs201721843 0.00007
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=) rs2227913 0.00006
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=) rs139515379 0.00004
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190 0.00004
NM_001161352.2(KCNMA1):c.498G>A (p.Ala166=) rs201765039 0.00004
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) rs201397661 0.00003
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=) rs779632278 0.00002
NM_001161352.2(KCNMA1):c.2280G>A (p.Gln760=) rs544095112 0.00001
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=) rs200166976 0.00001
NM_001161352.2(KCNMA1):c.3207G>A (p.Thr1069=) rs1298795044 0.00001
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661 0.00001
NM_001161352.2(KCNMA1):c.459C>T (p.Ala153=) rs779927857 0.00001
NM_001161352.2(KCNMA1):c.462C>T (p.Ala154=) rs200015007 0.00001
NM_001014797.3(KCNMA1):c.3525-6C>A
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.2484+1659G>A
NM_001161352.2(KCNMA1):c.2484+1764G>A
NM_001161352.2(KCNMA1):c.3579C>T (p.Ser1193=)
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.378+767C>T
NM_001161352.2(KCNMA1):c.379-89848G>A

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