ClinVar Miner

List of variants in gene CACNA2D1 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_000722.4(CACNA2D1):c.880-253T>C rs993302 0.94380
NM_000722.4(CACNA2D1):c.-183T>C rs6954596 0.65889
NM_000722.4(CACNA2D1):c.95+210A>G rs2190232 0.64070
NM_000722.4(CACNA2D1):c.2142-144T>C rs37067 0.61921
NM_000722.4(CACNA2D1):c.1273-119G>C rs37134 0.54685
NM_000722.4(CACNA2D1):c.1272+143T>G rs37135 0.52749
NM_000722.4(CACNA2D1):c.1223-123G>A rs37136 0.52008
NM_000722.4(CACNA2D1):c.1038+276T>G rs879660 0.50495
NM_000722.4(CACNA2D1):c.1662+139C>T rs6944326 0.46266
NM_000722.4(CACNA2D1):c.178-290C>A rs42237 0.44067
NM_000722.4(CACNA2D1):c.2463+99A>G rs17240387 0.43627
NM_000722.4(CACNA2D1):c.294+217G>A rs4732442 0.34228
NM_000722.4(CACNA2D1):c.2142-214A>C rs1229504 0.29377
NM_000722.4(CACNA2D1):c.2054-51G>C rs1229505 0.29065
NM_000722.4(CACNA2D1):c.354+216A>C rs38542 0.27665
NM_000722.4(CACNA2D1):c.177+260T>C rs13245449 0.27427
NM_000722.4(CACNA2D1):c.2836+40A>C rs1229503 0.25757
NM_000722.4(CACNA2D1):c.2967-169T>G rs2302383 0.25459
NM_000722.4(CACNA2D1):c.2728-30C>T rs3735517 0.25291
NM_000722.4(CACNA2D1):c.1362+282A>G rs59684283 0.25282
NM_000722.4(CACNA2D1):c.3114C>T (p.Pro1038=) rs1229502 0.25231
NM_000722.4(CACNA2D1):c.2780+152A>G rs1029847 0.22955
NM_000722.4(CACNA2D1):c.397-131G>T rs10954663 0.16997
NM_000722.4(CACNA2D1):c.397-206A>G rs2074729 0.16795
NM_000722.4(CACNA2D1):c.2309-194A>T rs4321937 0.16326
NM_000722.4(CACNA2D1):c.1956-270A>G rs78542628 0.09243
NM_000722.4(CACNA2D1):c.729-98A>G rs73703113 0.08799
NM_000722.4(CACNA2D1):c.2395+147T>C rs73379519 0.08790
NM_000722.4(CACNA2D1):c.2308+209C>T rs75520100 0.07811
NM_000722.4(CACNA2D1):c.658+275A>G rs73151543 0.06973
NM_000722.4(CACNA2D1):c.295-174A>T rs73387974 0.06834
NM_000722.4(CACNA2D1):c.295-211T>C rs73387976 0.06833
NM_000722.4(CACNA2D1):c.295-65A>G rs73705856 0.06820
NM_000722.4(CACNA2D1):c.95+240C>G rs28589575 0.06069
NM_000722.4(CACNA2D1):c.-157C>G rs79572976 0.05670
NM_000722.4(CACNA2D1):c.2575-94T>C rs17240359 0.05427
NM_000722.4(CACNA2D1):c.1874-310A>G rs34029083 0.05411
NM_000722.4(CACNA2D1):c.1591-289A>G rs37111 0.04222
NM_000722.4(CACNA2D1):c.1591-228C>G rs37109 0.04213
NM_000722.4(CACNA2D1):c.963G>A (p.Ala321=) rs2229952 0.03521
NM_000722.4(CACNA2D1):c.1363-84A>G rs73705437 0.02644
NM_000722.4(CACNA2D1):c.1515+103A>G rs4642581 0.02586
NM_000722.4(CACNA2D1):c.*120T>A rs78368203 0.02578
NM_000722.4(CACNA2D1):c.3160-323T>G rs17155681 0.02357
NM_000722.4(CACNA2D1):c.1663-304C>G rs37098 0.02350
NM_000722.4(CACNA2D1):c.1662+130G>A rs37107 0.02348
NM_000722.4(CACNA2D1):c.659-256A>G rs79063646 0.02348
NM_000722.4(CACNA2D1):c.1591-257T>C rs37110 0.02345
NM_000722.4(CACNA2D1):c.1441-139G>A rs37124 0.02338
NM_000722.4(CACNA2D1):c.1441-254T>C rs37125 0.02335
NM_000722.4(CACNA2D1):c.1363-273T>A rs37128 0.02328
NM_000722.4(CACNA2D1):c.1279T>C (p.Leu427=) rs37133 0.02238
NM_000722.4(CACNA2D1):c.2053+136G>A rs10272330 0.02141
NM_000722.4(CACNA2D1):c.1441-133G>T rs10480896 0.01931
NM_000722.4(CACNA2D1):c.780-218G>A rs11974188 0.01929
NM_000722.4(CACNA2D1):c.658+126C>T rs75921548 0.01860
NM_000722.4(CACNA2D1):c.1734+242A>T rs60130297 0.01768
NM_000722.4(CACNA2D1):c.1440+145C>T rs73705436 0.01718
NM_000722.4(CACNA2D1):c.1144-192T>C rs149091075 0.00943
NM_000722.4(CACNA2D1):c.2205-18G>A rs77599790 0.00807
NM_000722.4(CACNA2D1):c.1332C>T (p.Val444=) rs73151504 0.00692
NM_000722.4(CACNA2D1):c.1144-18A>G rs78174406 0.00599
NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr) rs151327713 0.00067
NM_000722.4(CACNA2D1):c.2502C>T (p.Asp834=) rs142390338 0.00044
NM_000722.4(CACNA2D1):c.1273-24_1273-21dup rs4019047
NM_000722.4(CACNA2D1):c.1273-24_1273-22dup rs4019047
NM_000722.4(CACNA2D1):c.1441-16del rs199645602
NM_000722.4(CACNA2D1):c.1441-190_1441-189insATA rs2067168
NM_000722.4(CACNA2D1):c.1441-25G>C rs10480895
NM_000722.4(CACNA2D1):c.1516-10del rs576139922
NM_000722.4(CACNA2D1):c.1516-9C>T rs201578104
NM_000722.4(CACNA2D1):c.1591-160TA[6] rs772030495
NM_000722.4(CACNA2D1):c.1591-209_1591-206dup rs113345131
NM_000722.4(CACNA2D1):c.1591-71G>A rs37108
NM_000722.4(CACNA2D1):c.1734+38A>T rs80109302
NM_000722.4(CACNA2D1):c.178-21dup rs5885290
NM_000722.4(CACNA2D1):c.1956-12_1956-11dup rs3083235
NM_000722.4(CACNA2D1):c.1956-235_1956-234insACCTAAT rs59793382
NM_000722.4(CACNA2D1):c.1956-78del rs61006565
NM_000722.4(CACNA2D1):c.1956-99del rs138987517
NM_000722.4(CACNA2D1):c.2781-142_2781-139dup rs3217083
NM_000722.4(CACNA2D1):c.295-71G>C rs73387972
NM_000722.4(CACNA2D1):c.2966+183A>G rs11979649
NM_000722.4(CACNA2D1):c.2966+67_2966+95del rs35112512
NM_000722.4(CACNA2D1):c.3160-18dup rs367960608
NM_000722.4(CACNA2D1):c.354+217C>A rs6956467
NM_000722.4(CACNA2D1):c.355-14_355-13dup rs142849270
NM_000722.4(CACNA2D1):c.355-14dup rs142849270
NM_000722.4(CACNA2D1):c.396+88_396+89insAAGTTTTTA rs2067170
NM_000722.4(CACNA2D1):c.397-46_397-45del rs141569527
NM_000722.4(CACNA2D1):c.659-18dup rs370103843
NM_000722.4(CACNA2D1):c.659-3del rs370103843
NM_000722.4(CACNA2D1):c.659-4_659-3del rs370103843
NM_000722.4(CACNA2D1):c.879+200A>G rs11977563
NM_000722.4(CACNA2D1):c.879+205_879+214del rs1562982207
NM_000722.4(CACNA2D1):c.879+217del rs1301037248
NM_000722.4(CACNA2D1):c.879+224A>G rs566204062
NM_000722.4(CACNA2D1):c.879+240A>T rs1290615505
NM_000722.4(CACNA2D1):c.879+242_879+243insAGT rs1234511698
NM_000722.4(CACNA2D1):c.879+244A>T rs1182708077
NM_000722.4(CACNA2D1):c.879+246_879+247insGGG rs1562981435
NM_000722.4(CACNA2D1):c.879+262_879+263insA rs377355935
NM_000722.4(CACNA2D1):c.879+262_879+263insAA rs377355935
NM_000722.4(CACNA2D1):c.95+23_95+25dup rs200745853

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