ClinVar Miner

List of variants in gene KCNMA1 studied for Cerebellar atrophy, developmental delay, and seizures

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Total variants: 7
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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.122C>T (p.Ser41Phe) rs766759815 0.00004
NM_001161352.2(KCNMA1):c.365G>C (p.Gly122Ala) rs199568153 0.00002
NM_001161352.2(KCNMA1):c.1372C>T (p.Arg458Ter) rs1328294721
NM_001161352.2(KCNMA1):c.1699G>A (p.Gly567Ser) rs2096271045
NM_001161352.2(KCNMA1):c.2026dup (p.Tyr676fs) rs762705295
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264

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