ClinVar Miner

List of variants in gene KEL reported as affects

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000420.3(KEL):c.1720G>A (p.Ala574Thr) rs767893228 0.00003
NM_000420.3(KEL):c.257G>A (p.Arg86Gln) rs777011308 0.00001
NM_000420.3(KEL):c.1934C>T (p.Ala645Val) rs147851584
NM_000420.3(KEL):c.2065G>T (p.Asp689Tyr) rs144613404
NM_000420.3(KEL):c.575G>A (p.Arg192Gln) rs754663945

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