ClinVar Miner

List of variants in gene KCNC3 reported as uncertain significance for cerebellar degeneration

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
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.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.1583T>G (p.Val528Gly) rs1601098237
NM_004977.3(KCNC3):c.1627G>A (p.Gly543Ser)
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)

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