ClinVar Miner

List of variants reported as uncertain significance for Poikiloderma with neutropenia by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024598.4(USB1):c.209G>A (p.Arg70Gln)	rs767016894	0.00002
NM_024598.4(USB1):c.253G>A (p.Val85Ile)	rs764580227	0.00002
NM_024598.4(USB1):c.796T>G (p.Ter266Gly)	rs1963706554

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