ClinVar Miner

List of variants in gene KCNMA1 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
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.34A>G (p.Ser12Gly) rs77602559 0.00605
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=) rs115772068 0.00145
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694 0.00097
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504 0.00032
NM_001161352.2(KCNMA1):c.825A>G (p.Arg275=) rs776877666 0.00004
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008 0.00003
NM_001161352.2(KCNMA1):c.2367C>A (p.Asp789Glu) rs587780363 0.00003
NM_001161352.2(KCNMA1):c.2363_2369del (p.His788fs) rs2152988950
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) rs587780364

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