List of variants in gene combination CACNA1A, LOC126862866 reported as uncertain significance for Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser)	rs977960069	0.00001
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met)	rs779827819
NM_001127222.2(CACNA1A):c.1059C>A (p.Asn353Lys)	rs1568546593
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys)	rs1568546593
NM_001127222.2(CACNA1A):c.981C>G (p.Ser327Arg)	rs2513056180
NM_001127222.2(CACNA1A):c.985G>A (p.Asp329Asn)	rs1353041373
NM_001127222.2(CACNA1A):c.985G>C (p.Asp329His)	rs1353041373
NM_001127222.2(CACNA1A):c.998A>G (p.Asn333Ser)	rs2513056079

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