ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.*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.89A>G (p.His30Arg) rs200474297 0.00044
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374 0.00041
NM_001161352.2(KCNMA1):c.2267-4486C>T rs188354139 0.00032
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.2398G>T (p.Asp800Tyr) rs142210216 0.00021
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.16G>A (p.Gly6Ser) rs914048941 0.00009
NM_001161352.2(KCNMA1):c.2165C>T (p.Ser722Leu) rs373620901 0.00009
NM_001161352.2(KCNMA1):c.2484+1682T>C rs201985454 0.00009
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.378+834G>A rs930939657 0.00004
NM_001161352.2(KCNMA1):c.498G>A (p.Ala166=) rs201765039 0.00004
NM_001161352.2(KCNMA1):c.2714C>T (p.Thr905Met) rs201192736 0.00003
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) rs201397661 0.00003
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile) rs762346849 0.00002
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn) rs201996416 0.00002
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=) rs779632278 0.00002
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly) rs137853333 0.00001
NM_001161352.2(KCNMA1):c.2021T>A (p.Phe674Tyr) rs755126695 0.00001
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.2981C>T (p.Thr994Ile) rs768061213 0.00001
NM_001161352.2(KCNMA1):c.3207G>A (p.Thr1069=) rs1298795044 0.00001
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn) rs1314238418 0.00001
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln) rs200141207 0.00001
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661 0.00001
NM_001161352.2(KCNMA1):c.3670T>C (p.Ser1224Pro) rs1370349180 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_001161352.2(KCNMA1):c.59G>A (p.Gly20Asp) rs888320237 0.00001
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.123C>A (p.Ser41=) rs1064797146
NM_001161352.2(KCNMA1):c.127T>A (p.Ser43Thr) rs1057519135
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.1750-3T>C rs369035808
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=) rs1064797145
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val) rs2092522027
NM_001161352.2(KCNMA1):c.2146C>T (p.Arg716Cys)
NM_001161352.2(KCNMA1):c.2484+1659G>A
NM_001161352.2(KCNMA1):c.2484+1764G>A
NM_001161352.2(KCNMA1):c.24_56del (p.Gly10_Gly20del)
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) rs1591664697
NM_001161352.2(KCNMA1):c.2647A>G (p.Ile883Val)
NM_001161352.2(KCNMA1):c.2651A>T (p.Glu884Val)
NM_001161352.2(KCNMA1):c.2902G>T (p.Gly968Trp) rs1064797144
NM_001161352.2(KCNMA1):c.3002T>C (p.Ile1001Thr) rs1590436024
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del) rs752334052
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) rs759136661
NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr)
NM_001161352.2(KCNMA1):c.3334G>A (p.Asp1112Asn)
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+398C>A rs2154571992
NM_001161352.2(KCNMA1):c.378+470A>G rs2093792504
NM_001161352.2(KCNMA1):c.378+767C>T
NM_001161352.2(KCNMA1):c.378+878del
NM_001161352.2(KCNMA1):c.379-89848G>A
NM_001161352.2(KCNMA1):c.37_63del (p.Gly13_Ser21del) rs1555528536
NM_001161352.2(KCNMA1):c.399T>A (p.Asn133Lys) rs767525618
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001161352.2(KCNMA1):c.463G>A (p.Glu155Lys)
NM_001161352.2(KCNMA1):c.541-5T>C
NM_001161352.2(KCNMA1):c.66T>A (p.Ser22Arg) rs2154572179
NM_001322830.2(KCNMA1):c.3615-6C>A

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.