List of variants in gene KCNMA1 reported as likely pathogenic by GeneDx

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001161352.2(KCNMA1):c.70_73del (p.Leu23_Arg24insTer)	rs2093893902	0.00001
NM_001161352.2(KCNMA1):c.1918C>T (p.Arg640Ter)	rs1407652513
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu)	rs150678882
NM_001161352.2(KCNMA1):c.369del (p.Lys124fs)	rs1603639319
NM_001161352.2(KCNMA1):c.540+1G>A	rs2154465020
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp)	rs1554841751

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