ClinVar Miner

List of variants in gene CACNA1H studied for Epilepsy, childhood absence, susceptibility to, 6

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=) rs4247094 0.85388
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=) rs8063574 0.85136
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His) rs1054645 0.64981
NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=) rs2738893 0.63925
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu) rs61734410 0.29755
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) rs59650398 0.01351
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977 0.00542
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) rs60593994 0.00318
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn) rs61056448 0.00086
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293 0.00032
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) rs376935647 0.00018
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys) rs756154211 0.00009
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro) rs61742096 0.00009
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His) rs538758039 0.00006
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661 0.00005
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr) rs931243903 0.00004
NM_021098.3(CACNA1H):c.721T>G (p.Phe241Val) rs56900494 0.00004
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser) rs760258010 0.00003
NM_021098.3(CACNA1H):c.2003-6C>T rs1435574238 0.00003
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met) rs574809183 0.00003
NM_021098.3(CACNA1H):c.4718G>A (p.Arg1573Gln) rs560884609 0.00003
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr) rs369917102 0.00003
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg) rs779925007 0.00003
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln) rs774313309 0.00002
NM_021098.3(CACNA1H):c.2491G>A (p.Val831Met) rs119454949 0.00002
NM_021098.3(CACNA1H):c.1585T>C (p.Tyr529His) rs1230959391 0.00001
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp) rs779011503 0.00001
NM_021098.3(CACNA1H):c.2730G>C (p.Lys910Asn) rs1330732054 0.00001
NM_021098.3(CACNA1H):c.2743G>A (p.Val915Met) rs762600701 0.00001
NM_021098.3(CACNA1H):c.2789+16C>T rs59952053 0.00001
NM_021098.3(CACNA1H):c.4789C>T (p.Arg1597Trp) rs747598216 0.00001
NM_021098.3(CACNA1H):c.4849C>T (p.His1617Tyr) rs776165690 0.00001
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr) rs1175867441 0.00001
NM_021098.3(CACNA1H):c.5917G>A (p.Ala1973Thr) rs1003957584 0.00001
NM_021098.3(CACNA1H):c.5968A>G (p.Arg1990Gly) rs779602893 0.00001
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu) rs1199118621 0.00001
NM_021098.3(CACNA1H):c.6965G>A (p.Arg2322Gln) rs1468102052 0.00001
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys) rs119454948 0.00001
NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu) rs375274586 0.00001
NM_021098.2(CACNA1H):c.[2318G>A;2362C>T]
NM_021098.3(CACNA1H):c.145T>C (p.Ser49Pro) rs1397714230
NM_021098.3(CACNA1H):c.1654C>T (p.Arg552Ter)
NM_021098.3(CACNA1H):c.1915G>A (p.Gly639Arg) rs1555512240
NM_021098.3(CACNA1H):c.2063C>T (p.Pro688Leu) rs2141277985
NM_021098.3(CACNA1H):c.2132A>G (p.Glu711Gly) rs1450545207
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) rs1555513044
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe) rs369474500
NM_021098.3(CACNA1H):c.3304G>A (p.Asp1102Asn) rs1555514961
NM_021098.3(CACNA1H):c.3434G>A (p.Trp1145Ter)
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala) rs1555515661
NM_021098.3(CACNA1H):c.3804C>G (p.Ser1268Arg) rs750607074
NM_021098.3(CACNA1H):c.3929C>T (p.Thr1310Ile) rs949144433
NM_021098.3(CACNA1H):c.4283G>A (p.Arg1428Lys)
NM_021098.3(CACNA1H):c.455TCA[1] (p.Ile153del) rs775597863
NM_021098.3(CACNA1H):c.4717C>T (p.Arg1573Ter) rs1567543511
NM_021098.3(CACNA1H):c.483C>A (p.Phe161Leu) rs119454947
NM_021098.3(CACNA1H):c.502G>A (p.Gly168Ser) rs1966875937
NM_021098.3(CACNA1H):c.592A>G (p.Ile198Val) rs774463255
NM_021098.3(CACNA1H):c.6122G>C (p.Gly2041Ala)
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn) rs1567558436
NM_021098.3(CACNA1H):c.6895G>T (p.Ala2299Ser) rs2141413125
NM_021098.3(CACNA1H):c.883C>G (p.Arg295Gly)

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.