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

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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: 7

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HGVS	dbSNP	gnomAD frequency
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dup
NM_001127222.2(CACNA1A):c.1004G>A (p.Trp335Ter)
NM_001127222.2(CACNA1A):c.1030ATC[2] (p.Ile346del)	rs2058556589
NM_001127222.2(CACNA1A):c.1060C>T (p.Leu354Phe)	rs1555767914
NM_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro)	rs1568546568
NM_001127222.2(CACNA1A):c.1082+1G>A	rs1272886269

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