ClinVar Miner

List of variants in gene KCNC3 studied for Spinocerebellar ataxia type 13

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=) rs111744086 0.01476
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=) rs2301357 0.00867
NM_004977.3(KCNC3):c.984G>A (p.Pro328=) rs114192110 0.00461
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly) rs549394447 0.00331
NM_004977.3(KCNC3):c.2093G>A (p.Arg698His) rs144957827 0.00255
NM_004977.3(KCNC3):c.315G>C (p.Thr105=) rs368049323 0.00104
NM_004977.3(KCNC3):c.1927G>A (p.Gly643Ser) rs778523009 0.00028
NM_004977.3(KCNC3):c.1884G>A (p.Ala628=) rs552133569 0.00023
NM_004977.3(KCNC3):c.2245G>A (p.Ala749Thr) rs1365532889 0.00005
NM_004977.3(KCNC3):c.751G>A (p.Gly251Ser) rs953647148 0.00004
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly) rs2037067131 0.00001
NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg) rs1305901422 0.00001
NM_004977.3(KCNC3):c.1130T>C (p.Leu377Pro) rs2123535291
NM_004977.3(KCNC3):c.1255G>A (p.Val419Ile)
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004977.3(KCNC3):c.1283C>T (p.Thr428Ile) rs879253883
NM_004977.3(KCNC3):c.1344C>A (p.Phe448Leu) rs104894700
NM_004977.3(KCNC3):c.1474A>G (p.Ile492Val)
NM_004977.3(KCNC3):c.1583T>G (p.Val528Gly) rs1601098237
NM_004977.3(KCNC3):c.1627G>A (p.Gly543Ser)
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_004977.3(KCNC3):c.1822A>G (p.Thr608Ala)
NM_004977.3(KCNC3):c.1850C>T (p.Pro617Leu) rs1284948650
NM_004977.3(KCNC3):c.1876G>C (p.Gly626Arg) rs368232448
NM_004977.3(KCNC3):c.1876G>T (p.Gly626Trp) rs368232448
NM_004977.3(KCNC3):c.1903G>A (p.Gly635Arg)
NM_004977.3(KCNC3):c.2014C>G (p.Leu672Val)
NM_004977.3(KCNC3):c.2143C>T (p.Pro715Ser)
NM_004977.3(KCNC3):c.2170+14C>T rs189018316
NM_004977.3(KCNC3):c.574C>G (p.His192Asp)

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.