ClinVar Miner

List of variants in gene KCNMA1 reported as likely pathogenic by Génétique des Maladies du Développement, Hospices Civils de Lyon

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001161352.2(KCNMA1):c.1699G>A (p.Gly567Ser)	rs2096271045
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp)	rs199681253

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