ClinVar Miner

List of variants in gene CACNA2D1 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn) rs78086631 0.00226
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917 0.00199
NM_000722.4(CACNA2D1):c.2673A>G (p.Val891=) rs142553634 0.00168
NM_000722.4(CACNA2D1):c.2058C>T (p.Asn686=) rs147499376 0.00062
NM_000722.4(CACNA2D1):c.651T>C (p.Tyr217=) rs146819424 0.00053
NM_000722.4(CACNA2D1):c.2397T>A (p.Val799=) rs191213592 0.00047
NM_000722.4(CACNA2D1):c.2768C>G (p.Thr923Ser) rs139608070 0.00047
NM_000722.4(CACNA2D1):c.1965C>T (p.Cys655=) rs184261698 0.00041
NM_000722.4(CACNA2D1):c.645T>A (p.Ala215=) rs140492813 0.00038
NM_000722.4(CACNA2D1):c.1482G>A (p.Leu494=) rs141344702 0.00031
NM_000722.4(CACNA2D1):c.60C>T (p.Gly20=) rs780748693 0.00024
NM_000722.4(CACNA2D1):c.2751A>T (p.Gln917His) rs145109446 0.00018
NM_000722.4(CACNA2D1):c.3081C>T (p.Asp1027=) rs568821967 0.00015
NM_000722.4(CACNA2D1):c.1222+4A>T rs79571328 0.00014
NM_000722.4(CACNA2D1):c.960C>T (p.Asp320=) rs199512133 0.00014
NM_000722.4(CACNA2D1):c.1569A>G (p.Leu523=) rs200510364 0.00013
NM_000722.4(CACNA2D1):c.3265C>T (p.Arg1089Cys) rs550794714 0.00013
NM_000722.4(CACNA2D1):c.1530G>A (p.Gly510=) rs757607965 0.00012
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_000722.4(CACNA2D1):c.1686G>C (p.Gly562=) rs148283249 0.00011
NM_000722.4(CACNA2D1):c.2919C>T (p.Asn973=) rs374073497 0.00011
NM_000722.4(CACNA2D1):c.2059G>A (p.Ala687Thr) rs751204853 0.00009
NM_000722.4(CACNA2D1):c.528A>C (p.Ser176=) rs138577227 0.00009
NM_000722.4(CACNA2D1):c.1887A>G (p.Lys629=) rs143995526 0.00008
NM_000722.4(CACNA2D1):c.2730A>T (p.Pro910=) rs187849336 0.00008
NM_000722.4(CACNA2D1):c.318A>G (p.Lys106=) rs757313687 0.00007
NM_000722.4(CACNA2D1):c.1608G>A (p.Glu536=) rs369435463 0.00006
NM_000722.4(CACNA2D1):c.1899G>A (p.Ser633=) rs763839433 0.00006
NM_000722.4(CACNA2D1):c.2334G>A (p.Ser778=) rs368512946 0.00006
NM_000722.4(CACNA2D1):c.1740T>C (p.Tyr580=) rs761279886 0.00005
NM_000722.4(CACNA2D1):c.2016C>T (p.Asn672=) rs558175396 0.00005
NM_000722.4(CACNA2D1):c.1158G>A (p.Thr386=) rs753918568 0.00004
NM_000722.4(CACNA2D1):c.1101G>A (p.Glu367=) rs145809709 0.00003
NM_000722.4(CACNA2D1):c.1611A>G (p.Pro537=) rs76594260 0.00003
NM_000722.4(CACNA2D1):c.1635A>C (p.Ala545=) rs540691116 0.00003
NM_000722.4(CACNA2D1):c.312G>A (p.Ala104=) rs565135307 0.00003
NM_000722.4(CACNA2D1):c.489C>T (p.His163=) rs372039045 0.00003
NM_000722.4(CACNA2D1):c.2658T>C (p.Tyr886=) rs775601344 0.00002
NM_000722.4(CACNA2D1):c.2682C>T (p.Pro894=) rs147728344 0.00002
NM_000722.4(CACNA2D1):c.2869C>T (p.Leu957=) rs767963200 0.00002
NM_000722.4(CACNA2D1):c.592G>A (p.Glu198Lys) rs370389203 0.00002
NM_000722.4(CACNA2D1):c.1062C>T (p.Cys354=) rs142965905 0.00001
NM_000722.4(CACNA2D1):c.1508G>A (p.Arg503His) rs758561622 0.00001
NM_000722.4(CACNA2D1):c.1941A>G (p.Thr647=) rs1796550348 0.00001
NM_000722.4(CACNA2D1):c.2040A>G (p.Pro680=) rs538190370 0.00001
NM_000722.4(CACNA2D1):c.2060C>T (p.Ala687Val) rs761738920 0.00001
NM_000722.4(CACNA2D1):c.2592A>T (p.Gly864=) rs556022468 0.00001
NM_000722.4(CACNA2D1):c.2847G>A (p.Glu949=) rs139597562 0.00001
NM_000722.4(CACNA2D1):c.2973T>C (p.Phe991=) rs1040607096 0.00001
NM_000722.4(CACNA2D1):c.3270G>A (p.Leu1090=) rs1323924657 0.00001
NM_000722.4(CACNA2D1):c.45A>G (p.Gln15=) rs771243374 0.00001
NM_000722.4(CACNA2D1):c.498C>T (p.Val166=) rs774323684 0.00001
NM_000722.4(CACNA2D1):c.525C>A (p.Gly175=) rs766849009 0.00001
NM_000722.4(CACNA2D1):c.591C>T (p.Arg197=) rs749757910 0.00001
NM_000722.4(CACNA2D1):c.66G>A (p.Ser22=) rs995732237 0.00001
NM_000722.4(CACNA2D1):c.75G>A (p.Glu25=) rs199857487 0.00001
NM_000722.4(CACNA2D1):c.1032G>A (p.Leu344=)
NM_000722.4(CACNA2D1):c.1078C>T (p.Leu360=)
NM_000722.4(CACNA2D1):c.111G>A (p.Val37=)
NM_000722.4(CACNA2D1):c.1137T>C (p.Asp379=)
NM_000722.4(CACNA2D1):c.129C>T (p.Asp43=)
NM_000722.4(CACNA2D1):c.1317C>T (p.Asp439=)
NM_000722.4(CACNA2D1):c.1359A>C (p.Ala453=)
NM_000722.4(CACNA2D1):c.1389T>A (p.Thr463=)
NM_000722.4(CACNA2D1):c.138A>G (p.Thr46=)
NM_000722.4(CACNA2D1):c.1395G>A (p.Pro465=)
NM_000722.4(CACNA2D1):c.1410C>T (p.Thr470=)
NM_000722.4(CACNA2D1):c.1416A>G (p.Gln472=) rs886039076
NM_000722.4(CACNA2D1):c.1437A>G (p.Leu479=) rs1554349590
NM_000722.4(CACNA2D1):c.1449G>A (p.Leu483=)
NM_000722.4(CACNA2D1):c.1476G>A (p.Val492=)
NM_000722.4(CACNA2D1):c.1495A>C (p.Arg499=)
NM_000722.4(CACNA2D1):c.14G>C (p.Cys5Ser) rs552468945
NM_000722.4(CACNA2D1):c.1515A>G (p.Thr505=)
NM_000722.4(CACNA2D1):c.1545C>A (p.Ile515=)
NM_000722.4(CACNA2D1):c.1560T>C (p.Tyr520=)
NM_000722.4(CACNA2D1):c.1602T>C (p.Ser534=)
NM_000722.4(CACNA2D1):c.1635A>G (p.Ala545=)
NM_000722.4(CACNA2D1):c.1647T>C (p.Asn549=)
NM_000722.4(CACNA2D1):c.1674G>A (p.Lys558=)
NM_000722.4(CACNA2D1):c.1685G>C (p.Gly562Ala)
NM_000722.4(CACNA2D1):c.1692T>C (p.Ser564=)
NM_000722.4(CACNA2D1):c.1714C>T (p.Leu572=)
NM_000722.4(CACNA2D1):c.1737A>G (p.Arg579=)
NM_000722.4(CACNA2D1):c.1898C>T (p.Ser633Leu)
NM_000722.4(CACNA2D1):c.1995T>G (p.Thr665=)
NM_000722.4(CACNA2D1):c.2055T>C (p.Cys685=)
NM_000722.4(CACNA2D1):c.2061G>A (p.Ala687=)
NM_000722.4(CACNA2D1):c.2085T>C (p.Leu695=) rs1554333976
NM_000722.4(CACNA2D1):c.2106A>G (p.Glu702=) rs1554333968
NM_000722.4(CACNA2D1):c.2223A>G (p.Gln741=)
NM_000722.4(CACNA2D1):c.2271T>C (p.Asp757=)
NM_000722.4(CACNA2D1):c.2283T>C (p.Tyr761=)
NM_000722.4(CACNA2D1):c.2309-12dup rs762936617
NM_000722.4(CACNA2D1):c.2309-3del rs762936617
NM_000722.4(CACNA2D1):c.232C>T (p.Leu78=)
NM_000722.4(CACNA2D1):c.2337C>T (p.Gly779=)
NM_000722.4(CACNA2D1):c.2472T>G (p.Gly824=)
NM_000722.4(CACNA2D1):c.249C>A (p.Ala83=)
NM_000722.4(CACNA2D1):c.2532T>A (p.Gly844=)
NM_000722.4(CACNA2D1):c.2532T>C (p.Gly844=)
NM_000722.4(CACNA2D1):c.2559T>C (p.Asp853=)
NM_000722.4(CACNA2D1):c.2565T>C (p.Tyr855=)
NM_000722.4(CACNA2D1):c.2821C>G (p.Arg941Gly)
NM_000722.4(CACNA2D1):c.2862G>A (p.Thr954=)
NM_000722.4(CACNA2D1):c.2874C>T (p.Ser958=)
NM_000722.4(CACNA2D1):c.2918A>T (p.Asn973Ile)
NM_000722.4(CACNA2D1):c.291G>A (p.Leu97=)
NM_000722.4(CACNA2D1):c.2943A>G (p.Val981=)
NM_000722.4(CACNA2D1):c.2944T>C (p.Leu982=)
NM_000722.4(CACNA2D1):c.295-870_295-61del
NM_000722.4(CACNA2D1):c.3001T>C (p.Leu1001=)
NM_000722.4(CACNA2D1):c.3016G>A (p.Val1006Ile)
NM_000722.4(CACNA2D1):c.3039A>C (p.Pro1013=)
NM_000722.4(CACNA2D1):c.3050G>A (p.Arg1017Gln)
NM_000722.4(CACNA2D1):c.3201C>G (p.Pro1067=)
NM_000722.4(CACNA2D1):c.3201C>T (p.Pro1067=) rs768028784
NM_000722.4(CACNA2D1):c.321T>G (p.Val107=)
NM_000722.4(CACNA2D1):c.3249A>G (p.Val1083=)
NM_000722.4(CACNA2D1):c.3252T>C (p.Ser1084=)
NM_000722.4(CACNA2D1):c.327A>G (p.Ala109=)
NM_000722.4(CACNA2D1):c.360T>C (p.Asn120=)
NM_000722.4(CACNA2D1):c.393C>T (p.Leu131=)
NM_000722.4(CACNA2D1):c.411C>T (p.Asp137=)
NM_000722.4(CACNA2D1):c.417G>A (p.Glu139=)
NM_000722.4(CACNA2D1):c.468A>G (p.Gly156=)
NM_000722.4(CACNA2D1):c.492A>G (p.Ala164=)
NM_000722.4(CACNA2D1):c.528A>G (p.Ser176=)
NM_000722.4(CACNA2D1):c.57C>G (p.Ile19Met) rs770350248
NM_000722.4(CACNA2D1):c.57C>T (p.Ile19=) rs770350248
NM_000722.4(CACNA2D1):c.585G>A (p.Lys195=)
NM_000722.4(CACNA2D1):c.609A>G (p.Leu203=)
NM_000722.4(CACNA2D1):c.63C>T (p.Pro21=)
NM_000722.4(CACNA2D1):c.659-18_659-17dup rs370103843
NM_000722.4(CACNA2D1):c.659-4_659-3del rs370103843
NM_000722.4(CACNA2D1):c.69G>T (p.Ser23=)
NM_000722.4(CACNA2D1):c.6T>G (p.Ala2=)
NM_000722.4(CACNA2D1):c.759C>T (p.Asp253=)
NM_000722.4(CACNA2D1):c.765T>A (p.Leu255=)
NM_000722.4(CACNA2D1):c.831C>G (p.Ser277=) rs144936173
NM_000722.4(CACNA2D1):c.831C>T (p.Ser277=) rs144936173
NM_000722.4(CACNA2D1):c.864C>T (p.Phe288=)
NM_000722.4(CACNA2D1):c.876T>A (p.Ala292=)
NM_000722.4(CACNA2D1):c.885C>T (p.Asn295=)

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