ClinVar Miner

List of variants in gene KCNC1 studied for Inborn genetic diseases

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Total variants: 40
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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.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.912G>A (p.Lys304=) rs114815696 0.00036
NM_001112741.2(KCNC1):c.677A>T (p.Asn226Ile) rs73424032 0.00028
NM_001112741.2(KCNC1):c.1659G>T (p.Glu553Asp) rs372580647 0.00018
NM_001112741.2(KCNC1):c.1065C>T (p.Gly355=) rs533816804 0.00009
NM_001112741.2(KCNC1):c.421G>T (p.Asp141Tyr) rs376363769 0.00009
NM_001112741.2(KCNC1):c.114G>A (p.Ala38=) rs200677353 0.00005
NM_001112741.2(KCNC1):c.1426G>A (p.Val476Ile) rs146311746 0.00005
NM_001112741.2(KCNC1):c.1467G>A (p.Pro489=) rs370905066 0.00005
NM_001112741.2(KCNC1):c.1673C>G (p.Pro558Arg) rs749270474 0.00005
NM_001112741.2(KCNC1):c.1585G>A (p.Asp529Asn) rs927483438 0.00004
NM_001112741.2(KCNC1):c.1619G>A (p.Arg540His) rs375362627 0.00003
NM_001112741.2(KCNC1):c.696A>C (p.Gln232His) rs775885483 0.00002
NM_001112741.2(KCNC1):c.131G>A (p.Ser44Asn) rs773455390 0.00001
NM_001112741.2(KCNC1):c.1451A>G (p.Gln484Arg) rs770586397 0.00001
NM_001112741.2(KCNC1):c.324G>A (p.Thr108=) rs1009771675 0.00001
NM_001112741.2(KCNC1):c.494C>T (p.Pro165Leu) rs749790557 0.00001
NM_001112741.2(KCNC1):c.693G>A (p.Thr231=) rs752437957 0.00001
NM_001112741.2(KCNC1):c.102C>A (p.Leu34=) rs370742331
NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)
NM_001112741.2(KCNC1):c.1245G>T (p.Leu415=) rs1849239262
NM_001112741.2(KCNC1):c.1272C>T (p.Gly424=)
NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met) rs1057524670
NM_001112741.2(KCNC1):c.1741G>T (p.Ala581Ser)
NM_001112741.2(KCNC1):c.219G>C (p.Thr73=) rs760446616
NM_001112741.2(KCNC1):c.240C>A (p.Ala80=) rs1223290421
NM_001112741.2(KCNC1):c.563A>G (p.Tyr188Cys) rs1027286161
NM_001112741.2(KCNC1):c.584C>A (p.Ala195Asp)
NM_001112741.2(KCNC1):c.637G>A (p.Glu213Lys)
NM_001112741.2(KCNC1):c.683G>C (p.Arg228Pro) rs200873319
NM_001112741.2(KCNC1):c.729C>T (p.Ala243=) rs1565162637
NM_001112741.2(KCNC1):c.741C>T (p.Tyr247=)
NM_001112741.2(KCNC1):c.744C>T (p.Ile248=) rs2229007
NM_001112741.2(KCNC1):c.822C>A (p.Ile274=)
NM_001112741.2(KCNC1):c.950G>A (p.Arg317His) rs1554991338
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818

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