ClinVar Miner

List of variants in gene CACNA2D4 reported as benign for cone-rod dystrophy

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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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.*1336C>A rs1044825 0.45063
NM_172364.5(CACNA2D4):c.*55A>C rs2058111 0.44223
NM_172364.5(CACNA2D4):c.*1387G>A rs13219 0.43235
NM_172364.5(CACNA2D4):c.*657G>A rs2286379 0.42974
NM_172364.5(CACNA2D4):c.1940+49A>G rs10848582 0.40511
NM_172364.5(CACNA2D4):c.1515A>G (p.Thr505=) rs60945277 0.22589
NM_172364.5(CACNA2D4):c.1599A>G (p.Ser533=) rs7966806 0.16201
NM_172364.5(CACNA2D4):c.2517G>A (p.Ala839=) rs33972365 0.14052
NM_172364.5(CACNA2D4):c.*1275T>G rs12811035 0.13240
NM_172364.5(CACNA2D4):c.1068+13G>A rs61386831 0.12491
NM_172364.5(CACNA2D4):c.3330C>T (p.Gly1110=) rs33912216 0.10702
NM_172364.5(CACNA2D4):c.1866G>A (p.Pro622=) rs758160 0.10656
NM_172364.5(CACNA2D4):c.*467A>G rs73041886 0.09439
NM_172364.5(CACNA2D4):c.*463G>A rs73041888 0.09393
NM_172364.5(CACNA2D4):c.237A>G (p.Leu79=) rs73038195 0.06912
NM_172364.5(CACNA2D4):c.2035C>T (p.Leu679=) rs2286372 0.06118
NM_172364.5(CACNA2D4):c.2316C>T (p.Phe772=) rs11836202 0.05504
NM_172364.5(CACNA2D4):c.1068+12C>T rs77282921 0.03029
NM_172364.5(CACNA2D4):c.3310-4G>A rs80092457 0.02675
NM_172364.5(CACNA2D4):c.*1360G>A rs2041139 0.02608
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.*1624G>C rs59734486 0.01973
NM_172364.5(CACNA2D4):c.2065A>G (p.Ile689Val) rs76224631 0.01557
NM_172364.5(CACNA2D4):c.2087A>G (p.His696Arg) rs115228472 0.01555
NM_172364.5(CACNA2D4):c.-91G>A rs76066543 0.01383
NM_172364.5(CACNA2D4):c.*1557A>C rs58494350 0.01105
NM_172364.5(CACNA2D4):c.-72C>T rs73595529 0.01105
NM_172364.5(CACNA2D4):c.487-4C>T rs60194757 0.01079
NM_172364.5(CACNA2D4):c.*1556T>C rs12303097 0.00963
NM_172364.5(CACNA2D4):c.*796G>A rs7956914 0.00961
NM_172364.5(CACNA2D4):c.*1217C>G rs151263240 0.00865
NM_172364.5(CACNA2D4):c.2152+13C>T rs143736778 0.00855
NM_172364.5(CACNA2D4):c.912G>A (p.Gly304=) rs74699105 0.00791
NM_172364.5(CACNA2D4):c.1508G>A (p.Ser503Asn) rs77736644 0.00781
NM_172364.5(CACNA2D4):c.2588G>A (p.Arg863His) rs36077411 0.00630
NM_172364.5(CACNA2D4):c.2606C>T (p.Thr869Met) rs35331095 0.00625
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) rs61741336 0.00623
NM_172364.5(CACNA2D4):c.2109G>C (p.Glu703Asp) rs77175207 0.00615
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser) rs55971855 0.00530
NM_172364.5(CACNA2D4):c.*1596G>A rs114262354 0.00523
NM_172364.5(CACNA2D4):c.2189C>T (p.Ala730Val) rs181994120 0.00442
NM_172364.5(CACNA2D4):c.139G>A (p.Val47Met) rs74606734 0.00424
NM_172364.5(CACNA2D4):c.1940+15C>T rs114870926 0.00397
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926 0.00329
NM_172364.5(CACNA2D4):c.2187C>T (p.Asp729=) rs78335326 0.00301
NM_172364.5(CACNA2D4):c.227+11C>T rs75470223 0.00015
NM_172364.5(CACNA2D4):c.837C>T (p.Arg279=) rs545533620 0.00004
NM_172364.5(CACNA2D4):c.*1202del rs57667551
NM_172364.5(CACNA2D4):c.*1428_*1429insGAG rs77487055
NM_172364.5(CACNA2D4):c.1359C>T (p.Tyr453=) rs573565912
NM_172364.5(CACNA2D4):c.1879-63C>G rs2370057
NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=) rs116214586
NM_172364.5(CACNA2D4):c.2342+96C>A rs7137553
NM_172364.5(CACNA2D4):c.419C>G (p.Ala140Gly) rs202054008
NM_172364.5(CACNA2D4):c.781+55_781+56insAAGAC rs59151112

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