ClinVar Miner

List of variants reported as likely benign for Retinal cone dystrophy 4

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.487-4C>T rs60194757 0.01079
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) rs61741336 0.00623
NM_172364.5(CACNA2D4):c.3310-8G>A rs186998620 0.00315
NM_172364.5(CACNA2D4):c.2239A>G (p.Met747Val) rs34007338 0.00255
NM_172364.5(CACNA2D4):c.*1597G>C rs115232565 0.00237
NM_172364.5(CACNA2D4):c.2009-3C>T rs185220718 0.00233
NM_172364.5(CACNA2D4):c.2891C>T (p.Ala964Val) rs201325274 0.00231
NM_172364.5(CACNA2D4):c.2921+7G>C rs202022529 0.00229
NM_172364.5(CACNA2D4):c.-174C>T rs374494829 0.00214
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489 0.00210
NM_172364.5(CACNA2D4):c.*123A>G rs188926382 0.00200
NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe) rs151121191 0.00130
NM_172364.5(CACNA2D4):c.*1403C>G rs148710446 0.00099
NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=) rs184770223 0.00060
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val) rs146752598 0.00016
NM_172364.5(CACNA2D4):c.1563G>A (p.Thr521=) rs11062013 0.00014
NM_172364.5(CACNA2D4):c.*1334A>G rs574025393
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=) rs201783863
NM_172364.5(CACNA2D4):c.1239G>T (p.Pro413=) rs201783863
NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=) rs116214586
NM_172364.5(CACNA2D4):c.419C>T (p.Ala140Val) rs202054008

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