ClinVar Miner

List of variants in gene KCNMA1 reported as benign by Invitae

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.2015+37C>T rs16934182 0.55282
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_001161352.2(KCNMA1):c.602+12634G>T rs553199 0.38855
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.2526C>T (p.Val842=) rs41274568 0.00917
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993 0.00682
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.2484+7G>A rs13377017 0.00176
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 0.00151
NM_001161352.2(KCNMA1):c.961-13C>G rs201400753 0.00148
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=) rs115772068 0.00145
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) rs75207686 0.00142
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694 0.00097
NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=) rs138823071 0.00091
NM_001161352.2(KCNMA1):c.144T>C (p.Ser48=) rs200608314 0.00060
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=) rs139309224 0.00012
NM_001161352.2(KCNMA1):c.1593+18C>T rs189310292 0.00004
NM_001161352.2(KCNMA1):c.1594-20dup rs535571320 0.00004
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190 0.00004
NM_001161352.2(KCNMA1):c.1614G>A (p.Pro538=) rs368568833 0.00003
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008 0.00003
NM_001161352.2(KCNMA1):c.3462-10C>T rs559764920 0.00002
NM_001161352.2(KCNMA1):c.1131+11del rs545073914
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.2710-19del rs112408409
NM_001161352.2(KCNMA1):c.2710-19dup rs112408409
NM_001161352.2(KCNMA1):c.412G>A (p.Ala138Thr)
NM_001161352.2(KCNMA1):c.603-19dup rs2154127967

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