List of variants reported as pathogenic for asphyxiating thoracic dystrophy 3 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)	rs537704873	0.00001
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs)	rs786205645
NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys)	rs1860716899
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)	rs758522600
NM_152773.5(DYNLT2B):c.317+4A>T	rs886039815

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