ClinVar Miner

List of variants reported as likely pathogenic for Asphyxiating thoracic dystrophy 2 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)	rs138004478	0.00043
NM_020800.3(IFT80):c.411dup (p.Met138fs)	rs778324141

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