ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862866 reported as pathogenic by Invitae

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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_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro)	rs1568546568
NM_001127222.2(CACNA1A):c.1082+1G>A	rs1272886269

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