List of variants reported as pathogenic for acrofacial dysostosis by Genetic Services Laboratory, University of Chicago

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004247.4(EFTUD2):c.1149+1G>C	rs797045550
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)	rs797045551
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter)	rs1555564341
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp)	rs387906877
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs)	rs797045954
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter)	rs797045955
NM_005850.5(SF3B4):c.45_46del (p.Tyr16fs)	rs797045956
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs)	rs797045957

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