ClinVar Miner

List of variants in gene KCNC1 reported as likely pathogenic for Epilepsy, progressive myoclonic 7

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Total variants: 5
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HGVS dbSNP
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.1(KCNC1):c.691A>G (p.Thr231Ala) rs1565162623
NM_001112741.2(KCNC1):c.108del (p.Trp36fs) rs1590088831
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu) rs0
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs) rs1590106815

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