ClinVar Miner

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

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297 0.00044
NM_001161352.2(KCNMA1):c.2267-4486C>T rs188354139 0.00032
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216 0.00021
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.378+834G>A rs930939657 0.00004
NM_001161352.2(KCNMA1):c.2714C>T (p.Thr905Met) rs201192736 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.2021T>A (p.Phe674Tyr) rs755126695 0.00001
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) rs768061213 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.3670T>C (p.Ser1224Pro) rs1370349180 0.00001
NM_001161352.2(KCNMA1):c.59G>A (p.Gly20Asp) rs888320237 0.00001
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.1750-3T>C rs369035808
NM_001161352.2(KCNMA1):c.1787G>T (p.Gly596Val)
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=) rs1064797145
NM_001161352.2(KCNMA1):c.2146C>T (p.Arg716Cys)
NM_001161352.2(KCNMA1):c.2267-4423C>T
NM_001161352.2(KCNMA1):c.2311C>T (p.Arg771Trp)
NM_001161352.2(KCNMA1):c.24_56del (p.Gly10_Gly20del)
NM_001161352.2(KCNMA1):c.2647A>G (p.Ile883Val)
NM_001161352.2(KCNMA1):c.2651A>T (p.Glu884Val)
NM_001161352.2(KCNMA1):c.283A>G (p.Met95Val) rs762347754
NM_001161352.2(KCNMA1):c.2890G>A (p.Ala964Thr)
NM_001161352.2(KCNMA1):c.2902G>T (p.Gly968Trp) rs1064797144
NM_001161352.2(KCNMA1):c.2979C>T (p.Ile993=)
NM_001161352.2(KCNMA1):c.3002T>C (p.Ile1001Thr) rs1590436024
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.378+284C>T
NM_001161352.2(KCNMA1):c.378+398C>A rs2154571992
NM_001161352.2(KCNMA1):c.378+470A>G rs2093792504
NM_001161352.2(KCNMA1):c.378+5C>A rs757766830
NM_001161352.2(KCNMA1):c.378+878del
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

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