ClinVar Miner

List of variants in gene CACNA2D1 reported as benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
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.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.1983G>A (p.Ser661=) rs75158917 0.00199
NM_000722.4(CACNA2D1):c.2837-7A>G rs112176710 0.00187
NM_000722.4(CACNA2D1):c.2673A>G (p.Val891=) rs142553634 0.00168
NM_000722.4(CACNA2D1):c.1038+12G>A rs117959542 0.00141
NM_000722.4(CACNA2D1):c.1735-6T>C rs111772206 0.00084
NM_000722.4(CACNA2D1):c.1735-8del rs554101334 0.00076
NM_000722.4(CACNA2D1):c.2309-9T>A rs370816599 0.00073
NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr) rs151327713 0.00067
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.2502C>T (p.Asp834=) rs142390338 0.00044
NM_000722.4(CACNA2D1):c.960C>T (p.Asp320=) rs199512133 0.00014
NM_000722.4(CACNA2D1):c.728+13A>C rs149406906 0.00012
NM_000722.4(CACNA2D1):c.1441-6T>C rs532460440 0.00006
NM_000722.4(CACNA2D1):c.1273-12del rs4019047
NM_000722.4(CACNA2D1):c.1273-12dup rs4019047
NM_000722.4(CACNA2D1):c.1273-13_1273-12dup
NM_000722.4(CACNA2D1):c.1273-16_1273-12dup rs4019047
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.1516-10del rs576139922
NM_000722.4(CACNA2D1):c.1516-9C>T rs201578104
NM_000722.4(CACNA2D1):c.178-12del rs5885290
NM_000722.4(CACNA2D1):c.178-13_178-12dup
NM_000722.4(CACNA2D1):c.178-21dup rs5885290
NM_000722.4(CACNA2D1):c.1956-12_1956-10dup rs3083235
NM_000722.4(CACNA2D1):c.1956-12_1956-11dup rs3083235
NM_000722.4(CACNA2D1):c.1956-12dup rs3083235
NM_000722.4(CACNA2D1):c.1956-4del rs3083235
NM_000722.4(CACNA2D1):c.2309-12dup rs762936617
NM_000722.4(CACNA2D1):c.2309-3del rs762936617
NM_000722.4(CACNA2D1):c.2727+8del rs538712996
NM_000722.4(CACNA2D1):c.2781-16del rs758260884
NM_000722.4(CACNA2D1):c.2781-16dup rs758260884
NM_000722.4(CACNA2D1):c.3160-18_3160-17dup rs367960608
NM_000722.4(CACNA2D1):c.3160-18dup rs367960608
NM_000722.4(CACNA2D1):c.3160-19_3160-16del rs548221134
NM_000722.4(CACNA2D1):c.3160-9del rs367960608
NM_000722.4(CACNA2D1):c.355-14_355-13dup rs142849270
NM_000722.4(CACNA2D1):c.355-14dup rs142849270
NM_000722.4(CACNA2D1):c.355-5del rs142849270
NM_000722.4(CACNA2D1):c.527-6dup rs754041784
NM_000722.4(CACNA2D1):c.659-18dup rs370103843
NM_000722.4(CACNA2D1):c.659-3del rs370103843
NM_000722.4(CACNA2D1):c.831C>G (p.Ser277=) rs144936173

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.