List of variants in gene CACNA1A reported as uncertain significance by New York Genome Center

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)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr)	rs533884784	0.00017
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)	rs121908235	0.00006
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)	rs1406066197	0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)	rs745775887	0.00004
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val)	rs952757731	0.00002
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile)	rs756562814	0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys)	rs2057741441	0.00001
NM_001127222.2(CACNA1A):c.1199-7T>A	rs2145126181
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg)	rs751726770
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)	rs747413278
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
NM_001127222.2(CACNA1A):c.3090-5C>T	rs976595665
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr)	rs2057414205
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu)	rs1476884019
NM_001127222.2(CACNA1A):c.3822+70A>G	rs1462524553
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu)	rs1417890059
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg)	rs2144488387

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