List of variants in gene combination CACNA1A, LOC130063717 reported as uncertain significance by GeneDx

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys)	rs758625682	0.00005
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp)	rs759576380	0.00004
NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln)	rs773057074	0.00003
NM_001127222.2(CACNA1A):c.6709C>T (p.Arg2237Trp)	rs1415336869	0.00001
NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=)	rs375958273	0.00001
NM_001127222.2(CACNA1A):c.6776G>A (p.Arg2259Gln)	rs201582095	0.00001
NM_001127222.2(CACNA1A):c.6714_6719dup (p.2238AR[3])	rs1042488847
NM_001127222.2(CACNA1A):c.6730C>T (p.Arg2244Cys)	rs1021438528
NM_001127222.2(CACNA1A):c.6739C>T (p.Arg2247Cys)	rs1265035474
NM_001127222.2(CACNA1A):c.6745C>T (p.Pro2249Ser)
NM_001127222.2(CACNA1A):c.6752A>G (p.Glu2251Gly)
NM_001127222.2(CACNA1A):c.6770C>G (p.Ala2257Gly)	rs755099305
NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp)	rs750267834
NM_001127222.2(CACNA1A):c.6780+3G>C	rs1307510001

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