ClinVar Miner

List of variants in gene KCNC1 reported as benign for childhood-onset epilepsy syndrome

Included ClinVar conditions (90):
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_001112741.2(KCNC1):c.72G>A (p.Ser24=) rs76929858 0.03099
NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=) rs73424033 0.00289
NM_001112741.2(KCNC1):c.570+19A>T rs186151622 0.00282
NM_001112741.2(KCNC1):c.1629C>T (p.Tyr543=) rs552972841 0.00255
NM_001112741.2(KCNC1):c.1017A>C (p.Arg339=) rs137989254 0.00239
NM_001112741.2(KCNC1):c.933C>T (p.Arg311=) rs76882721 0.00220
NM_001112741.2(KCNC1):c.1287C>A (p.Ala429=) rs139804857 0.00133
NM_001112741.2(KCNC1):c.750C>T (p.Gly250=) rs147271572 0.00028
NM_001112741.2(KCNC1):c.1584C>T (p.Pro528=) rs1044982783 0.00027
NM_001112741.2(KCNC1):c.717C>T (p.Ala239=) rs143670270 0.00019
NM_001112741.2(KCNC1):c.1505-9dup rs760343215 0.00013
NM_001112741.2(KCNC1):c.1451A>G (p.Gln484Arg) rs770586397 0.00001
NM_001112741.2(KCNC1):c.1293C>G (p.Pro431=) rs577711585
NM_001112741.2(KCNC1):c.744C>T (p.Ile248=) rs2229007

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