ClinVar Miner

List of variants in gene KCNE1 reported as benign by Invitae

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.*1219A>G rs11909074 0.50320
NM_000219.6(KCNE1):c.-50-288A>G rs2070358 0.01366
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) rs199473353 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005

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