List of variants in gene CACNA2D4 studied for cone dystrophy 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val)	rs10735005	0.91686
NM_172364.5(CACNA2D4):c.*1078del	rs3214264	0.02123
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His)	rs76064926	0.00329
NM_172364.5(CACNA2D4):c.593T>A (p.Leu198Gln)	rs200563551	0.00011
NM_172364.5(CACNA2D4):c.*425G>A	rs886049120	0.00006
NM_172364.5(CACNA2D4):c.3339G>A (p.Ser1113=)	rs371916321	0.00004
NM_172364.5(CACNA2D4):c.2714C>T (p.Ser905Phe)	rs372942250	0.00003
NM_172364.5(CACNA2D4):c.*1202del	rs57667551
NM_172364.5(CACNA2D4):c.1428_1429insGAG	rs77487055
NM_172364.5(CACNA2D4):c.2868+4_2868+7del	rs760300917
NM_172364.5(CACNA2D4):c.684A>C (p.Glu228Asp)	rs886049131

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