List of variants in gene WDR19 reported as likely pathogenic for Jeune thoracic dystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)	rs377160857	0.00006
NM_025132.4(WDR19):c.3565+1G>A	rs587777352	0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs)	rs748656635	0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)	rs375644378	0.00004
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)	rs1215108056	0.00001
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter)	rs772599282	0.00001
NM_025132.4(WDR19):c.3716+1G>A	rs1191056931
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr)	rs745603321
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser)	rs1553905326

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