ClinVar Miner

List of variants reported as uncertain significance for Senior-Loken syndrome 8

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_025132.4(WDR19):c.2909C>T (p.Ala970Val) rs771583357 0.00001
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe) rs796543493 0.00001
NM_025132.4(WDR19):c.1010C>T (p.Ser337Phe)
NM_025132.4(WDR19):c.2897A>G (p.Asp966Gly)

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