ClinVar Miner

List of variants in gene WDR19 reported as uncertain significance for Jeune thoracic dystrophy

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Total variants: 9
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NM_025132.4(WDR19):c.*293_*296dup rs374474677
NM_025132.4(WDR19):c.1134+13T>G rs374615138
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899
NM_025132.4(WDR19):c.1249+9A>G rs201377206
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111
NM_025132.4(WDR19):c.3758G>A (p.Cys1253Tyr) rs750716949
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925
NM_025132.4(WDR19):c.974T>C (p.Leu325Ser) rs1193255568

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