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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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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.70_73del (p.Leu23_Arg24insTer)	rs2093893902	0.00001
NC_000010.10:g.(?_78998319)_(79163801_?)del
NM_001161352.2(KCNMA1):c.1284del (p.Leu429fs)	rs2153792334
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs)	rs2153773364
NM_001161352.2(KCNMA1):c.1869del (p.Phe623fs)
NM_001161352.2(KCNMA1):c.2488C>T (p.Arg830Ter)	rs2065361594
NM_001161352.2(KCNMA1):c.2521del (p.His841fs)	rs2152944295
NM_001161352.2(KCNMA1):c.2786del (p.Asn929fs)	rs2063502424
NM_001161352.2(KCNMA1):c.2824G>A (p.Glu942Lys)	rs1554966197
NM_001161352.2(KCNMA1):c.302dup (p.Leu102fs)	rs753408207
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)	rs886039469

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