ClinVar Miner

List of variants in gene KCNC1 reported as likely pathogenic by Invitae

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val) rs1485166517 0.00001
NM_001112741.2(KCNC1):c.108del (p.Trp36fs) rs1590088831
NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala) rs1565162623

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