List of variants reported as benign for CACNA2D4-related retinopathy by Genome-Nilou Lab

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_172364.5(CACNA2D4):c.228-215T>C	rs758157	0.93628
NM_172364.5(CACNA2D4):c.843-83C>G	rs2906892	0.91687
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val)	rs10735005	0.91686
NM_172364.5(CACNA2D4):c.1351+72A>G	rs2429184	0.91685
NM_172364.5(CACNA2D4):c.310-106A>G	rs1558142	0.90569
NM_172364.5(CACNA2D4):c.2471-27_2471-26insG	rs58188909	0.89524
NM_172364.5(CACNA2D4):c.2247-35A>G	rs7137876	0.84213
NM_172364.5(CACNA2D4):c.2342+92G>T	rs7138458	0.78150
NM_172364.5(CACNA2D4):c.1068+89T>C	rs10774003	0.72251
NM_172364.5(CACNA2D4):c.2659-37G>A	rs2286377	0.51307
NM_172364.5(CACNA2D4):c.*55A>C	rs2058111	0.44223
NM_172364.5(CACNA2D4):c.1940+49A>G	rs10848582	0.40511
NM_172364.5(CACNA2D4):c.2793-15G>A	rs147575839	0.02191
NM_172364.5(CACNA2D4):c.2746G>A (p.Asp916Asn)	rs62621429	0.02126
NM_172364.5(CACNA2D4):c.1879-63C>G	rs2370057
NM_172364.5(CACNA2D4):c.2342+96C>A	rs7137553
NM_172364.5(CACNA2D4):c.781+55_781+56insAAGAC	rs59151112

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