ClinVar Miner

List of variants in gene CACNA1G reported as uncertain significance for cerebellar degeneration

Included ClinVar conditions (272):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) rs200203979 0.00043
NM_018896.5(CACNA1G):c.5776C>T (p.Pro1926Ser) rs541541250 0.00040
NM_018896.5(CACNA1G):c.3197C>T (p.Ser1066Leu) rs577659325 0.00014
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys) rs760308715 0.00012
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro) rs527612343 0.00011
NM_018896.5(CACNA1G):c.3629G>A (p.Arg1210Gln) rs762314651 0.00009
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu) rs747028553 0.00007
NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys) rs779077930 0.00006
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) rs1422686570 0.00004
NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu) rs551391397 0.00003
NM_018896.5(CACNA1G):c.2131C>T (p.Arg711Trp) rs2301833 0.00003
NM_018896.5(CACNA1G):c.2320G>A (p.Ala774Thr) rs562004080 0.00003
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp) rs747347699 0.00002
NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln) rs781240948 0.00002
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp) rs780132660 0.00002
NM_018896.5(CACNA1G):c.6656C>T (p.Thr2219Met) rs1433017716 0.00002
NM_018896.5(CACNA1G):c.6769C>T (p.Arg2257Trp) rs1444290546 0.00002
NM_018896.5(CACNA1G):c.6949G>A (p.Glu2317Lys) rs767121010 0.00002
NM_018896.5(CACNA1G):c.865C>T (p.Arg289Cys) rs761241506 0.00002
NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg) rs1207224249 0.00001
NM_018896.5(CACNA1G):c.2979+1G>T rs1270287011 0.00001
NM_018896.5(CACNA1G):c.3065-5T>A rs756390450 0.00001
NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser) rs1458889280 0.00001
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg) rs762204818 0.00001
NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln) rs1295882768 0.00001
NM_018896.5(CACNA1G):c.5238G>C (p.Leu1746=) rs771021266 0.00001
NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro) rs1312607495 0.00001
NM_018896.5(CACNA1G):c.1126A>G (p.Ile376Val) rs944581365
NM_018896.5(CACNA1G):c.1228C>T (p.Arg410Trp)
NM_018896.5(CACNA1G):c.1246T>C (p.Phe416Leu)
NM_018896.5(CACNA1G):c.1288G>A (p.Gly430Ser) rs1598151147
NM_018896.5(CACNA1G):c.1364C>T (p.Ser455Phe)
NM_018896.5(CACNA1G):c.1367G>T (p.Arg456Leu) rs116920450
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala) rs2040529103
NM_018896.5(CACNA1G):c.1501C>T (p.His501Tyr) rs750741896
NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg) rs2041195702
NM_018896.5(CACNA1G):c.2509C>T (p.Arg837Cys) rs2545219151
NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile) rs2545221475
NM_018896.5(CACNA1G):c.265T>G (p.Leu89Val)
NM_018896.5(CACNA1G):c.2850C>G (p.Phe950Leu) rs536992411
NM_018896.5(CACNA1G):c.2885T>C (p.Ile962Thr) rs2145513175
NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter) rs2045220988
NM_018896.5(CACNA1G):c.3086C>T (p.Pro1029Leu)
NM_018896.5(CACNA1G):c.3182C>G (p.Ala1061Gly) rs781015006
NM_018896.5(CACNA1G):c.3218G>T (p.Gly1073Val) rs2545364743
NM_018896.5(CACNA1G):c.3373A>G (p.Ser1125Gly) rs2545422516
NM_018896.5(CACNA1G):c.354+5GT[13] rs3833150
NM_018896.5(CACNA1G):c.3601G>A (p.Gly1201Ser) rs1450096310
NM_018896.5(CACNA1G):c.3812G>A (p.Arg1271Gln)
NM_018896.5(CACNA1G):c.3890G>A (p.Arg1297His)
NM_018896.5(CACNA1G):c.4016A>G (p.Gln1339Arg)
NM_018896.5(CACNA1G):c.4051G>A (p.Gly1351Arg) rs2545490933
NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln) rs1260560600
NM_018896.5(CACNA1G):c.4181G>A (p.Arg1394Gln)
NM_018896.5(CACNA1G):c.4318G>A (p.Val1440Met)
NM_018896.5(CACNA1G):c.4325A>G (p.Gln1442Arg) rs2047867072
NM_018896.5(CACNA1G):c.4657C>G (p.Arg1553Gly) rs1280758772
NM_018896.5(CACNA1G):c.4663C>G (p.Arg1555Gly)
NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys) rs756359036
NM_018896.5(CACNA1G):c.4712T>A (p.Met1571Lys)
NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro) rs1555565684
NM_018896.5(CACNA1G):c.5125C>T (p.Arg1709Cys) rs1361597066
NM_018896.5(CACNA1G):c.5126G>A (p.Arg1709His) rs758591579
NM_018896.5(CACNA1G):c.5161A>T (p.Lys1721Ter) rs2050911351
NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg) rs2050959815
NM_018896.5(CACNA1G):c.532G>A (p.Ala178Thr) rs2144657245
NM_018896.5(CACNA1G):c.5438G>A (p.Arg1813Gln) rs1046806904
NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu) rs1567964995
NM_018896.5(CACNA1G):c.5473G>T (p.Val1825Phe)
NM_018896.5(CACNA1G):c.5582_5590del (p.Ala1861_Glu1863del) rs2051097359
NM_018896.5(CACNA1G):c.5705A>C (p.Asp1902Ala) rs2545763563
NM_018896.5(CACNA1G):c.6368C>A (p.Ser2123Tyr) rs1264876481
NM_018896.5(CACNA1G):c.6485C>A (p.Pro2162His) rs2053744294
NM_018896.5(CACNA1G):c.661G>A (p.Val221Ile) rs970742328
NM_018896.5(CACNA1G):c.6860C>T (p.Pro2287Leu) rs1343812259
NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu) rs1192468690
NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro) rs2053882218
NM_018896.5(CACNA1G):c.757G>A (p.Val253Met)
NM_018896.5(CACNA1G):c.866G>A (p.Arg289His) rs372309945
NM_018896.5(CACNA1G):c.907G>A (p.Glu303Lys) rs1050691652

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.