ClinVar Miner

List of variants in gene KCNMA1 reported as likely pathogenic for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NC_000010.10:g.(?_78943159)_(78944694_?)dup
NC_000010.10:g.(?_78998319)_(79163801_?)dup
NM_001161352.2(KCNMA1):c.1054A>G (p.Thr352Ala) rs863224885
NM_001161352.2(KCNMA1):c.1749+2T>C
NM_001161352.2(KCNMA1):c.1807A>G (p.Thr603Ala) rs2094531972
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)
NM_001161352.2(KCNMA1):c.2092+1G>A rs2090875352
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser) rs1565091862
NM_001161352.2(KCNMA1):c.3016+2T>C
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn) rs2049489016
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161352.2(KCNMA1):c.574C>A (p.Leu192Ile) rs2154251764

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