List of variants in gene KCNMA1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001161352.2(KCNMA1):c.378+503T>C	rs200150931	0.00001
NM_001161352.2(KCNMA1):c.1361C>A (p.Ala454Asp)	rs1057518815
NM_001161352.2(KCNMA1):c.1783G>A (p.Glu595Lys)	rs2094532399
NM_001161352.2(KCNMA1):c.2408A>T (p.Asp803Val)	rs2067187945
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys)	rs779739159
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup)	rs760628050

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