ClinVar Miner

List of variants in gene WDR19 studied for Jeune thoracic dystrophy

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Total variants: 19
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HGVS dbSNP
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.1483G>C (p.Gly495Arg) rs1215108056
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) rs772599282
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111
NM_025132.4(WDR19):c.3565+1G>A rs587777352
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3758G>A (p.Cys1253Tyr) rs750716949
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) rs745603321
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) rs747165335
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser) rs1553905326
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857
NM_025132.4(WDR19):c.974T>C (p.Leu325Ser) rs1193255568

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