ClinVar Miner

List of variants in gene KCNMA1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) rs143599540 0.00045
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297 0.00044
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) rs149647577 0.00033
NM_001161352.2(KCNMA1):c.3148-8T>C rs79155047 0.00031
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=) rs147378590 0.00021
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=) rs143562140 0.00018
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) rs794726902 0.00012
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.1218A>G (p.Gly406=) rs755284666 0.00006
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.2675C>T (p.Thr892Met) rs200440843 0.00003
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val) rs369845234 0.00003
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser) rs886043569 0.00002
NM_001161352.2(KCNMA1):c.2770G>A (p.Val924Ile) rs764912308 0.00002
NM_001161352.2(KCNMA1):c.1224-6G>A rs370838557 0.00001
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=) rs201999021 0.00001
NM_001161352.2(KCNMA1):c.2436T>C (p.Thr812=) rs779629574 0.00001
NM_001161352.2(KCNMA1):c.2484+9G>C rs767569709 0.00001
NM_001161352.2(KCNMA1):c.3342+10C>T rs752873857 0.00001
NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met) rs200284976 0.00001
NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del) rs794726903
NM_001161352.2(KCNMA1):c.2914C>T (p.Pro972Ser) rs794727378
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) rs759136661
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967

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