List of variants in gene KCNMA1 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly)	rs137853333	0.00001
NM_001161352.2(KCNMA1):c.1052C>A (p.Ser351Tyr)	rs2153875876
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg)	rs1554829003
NM_001161352.2(KCNMA1):c.1372C>T (p.Arg458Ter)	rs1328294721
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val)	rs2092522027
NM_001161352.2(KCNMA1):c.2026dup (p.Tyr676fs)	rs762705295
NM_001161352.2(KCNMA1):c.2824G>A (p.Glu942Lys)	rs1554966197
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn)	rs2049489016
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)	rs886039469

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