ClinVar Miner

List of variants in gene KCNMA1 reported as likely pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn) rs2049489016

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