ClinVar Miner

List of variants in gene CACNA2D1 studied for not specified

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000722.4(CACNA2D1):c.3114C>T (p.Pro1038=) rs1229502 0.25231
NM_000722.4(CACNA2D1):c.963G>A (p.Ala321=) rs2229952 0.03521
NM_000722.4(CACNA2D1):c.879+9840A>T rs79030053 0.03444
NM_000722.4(CACNA2D1):c.1279T>C (p.Leu427=) rs37133 0.02238
NM_000722.4(CACNA2D1):c.2205-18G>A rs77599790 0.00807
NM_000722.4(CACNA2D1):c.659-18_659-17insC rs1554387291 0.00740
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.659-17T>C rs201932919 0.00513
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_000722.4(CACNA2D1):c.659-19C>T rs200166451 0.00353
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.2837-7A>G rs112176710 0.00187
NM_000722.4(CACNA2D1):c.-40C>G rs200428602 0.00138
NM_000722.4(CACNA2D1):c.1735-6T>C rs111772206 0.00084
NM_000722.4(CACNA2D1):c.2502C>T (p.Asp834=) rs142390338 0.00044
NM_000722.4(CACNA2D1):c.2463+13T>A rs771850068 0.00034
NM_000722.4(CACNA2D1):c.659-15T>A rs1046985886 0.00031
NM_000722.4(CACNA2D1):c.1273-12T>C rs560674806 0.00026
NM_000722.4(CACNA2D1):c.1516-14T>C rs375141743 0.00024
NM_000722.4(CACNA2D1):c.397-6A>G rs200817801 0.00023
NM_000722.4(CACNA2D1):c.1735-17G>A rs367841992 0.00019
NM_000722.4(CACNA2D1):c.728+13A>C rs149406906 0.00012
NM_000722.4(CACNA2D1):c.1686G>C (p.Gly562=) rs148283249 0.00011
NM_000722.4(CACNA2D1):c.528A>C (p.Ser176=) rs138577227 0.00009
NM_000722.4(CACNA2D1):c.1740T>C (p.Tyr580=) rs761279886 0.00005
NM_000722.4(CACNA2D1):c.2967-15A>G rs750119271 0.00005
NM_000722.4(CACNA2D1):c.1158G>A (p.Thr386=) rs753918568 0.00004
NM_000722.4(CACNA2D1):c.1441-12C>G rs559623642 0.00004
NM_000722.4(CACNA2D1):c.1796+8A>G rs200882576 0.00004
NM_000722.4(CACNA2D1):c.2054-20A>G rs751143429 0.00004
NM_000722.4(CACNA2D1):c.1611A>G (p.Pro537=) rs76594260 0.00003
NM_000722.4(CACNA2D1):c.2682C>T (p.Pro894=) rs147728344 0.00002
NM_000722.4(CACNA2D1):c.2837-14C>G rs774076778 0.00002
NM_000722.4(CACNA2D1):c.2869C>T (p.Leu957=) rs767963200 0.00002
GRCh37/hg19 7q21.11(chr7:81967752-82376124)
NM_000722.4(CACNA2D1):c.-40C>T rs200428602
NM_000722.4(CACNA2D1):c.1273-24_1273-21dup rs4019047
NM_000722.4(CACNA2D1):c.1516-23dup rs576139922
NM_000722.4(CACNA2D1):c.1516-9C>T rs201578104
NM_000722.4(CACNA2D1):c.1590+19T>C rs1554348402
NM_000722.4(CACNA2D1):c.1662+15T>C rs1554345032
NM_000722.4(CACNA2D1):c.178-21dup rs5885290
NM_000722.4(CACNA2D1):c.1873+14A>T rs1057524018
NM_000722.4(CACNA2D1):c.1956-12_1956-11dup rs3083235
NM_000722.4(CACNA2D1):c.2085T>C (p.Leu695=) rs1554333976
NM_000722.4(CACNA2D1):c.2721A>T (p.Ala907=) rs758369222
NM_000722.4(CACNA2D1):c.2727+8del rs538712996
NM_000722.4(CACNA2D1):c.3160-18dup rs367960608
NM_000722.4(CACNA2D1):c.3160-19_3160-15del rs778907208
NM_000722.4(CACNA2D1):c.3160-9del rs367960608
NM_000722.4(CACNA2D1):c.355-14dup rs142849270
NM_000722.4(CACNA2D1):c.659-18_659-17dup rs370103843
NM_000722.4(CACNA2D1):c.659-23CT[2] rs66474649
NM_000722.4(CACNA2D1):c.659-4_659-3del rs370103843
NM_000722.4(CACNA2D1):c.831C>T (p.Ser277=) rs144936173

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