List of variants reported as pathogenic for Asphyxiating thoracic dystrophy 5

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_025132.4(WDR19):c.1250-1G>A	rs1327583103	0.00009
NM_025132.4(WDR19):c.781dup (p.Thr261fs)	rs748656635	0.00004
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)	rs387906980	0.00003
NM_025132.4(WDR19):c.108T>G (p.Tyr36Ter)	rs1577822861
NM_025132.4(WDR19):c.1442A>G (p.His481Arg)	rs1729264976
NM_025132.4(WDR19):c.20T>C (p.Leu7Pro)	rs387906982
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp)	rs766616967

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