ClinVar Miner

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

Included ClinVar conditions (1):
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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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