ClinVar Miner

List of variants in gene KCNC3 studied for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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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.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

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