ClinVar Miner

List of variants studied for Asphyxiating thoracic dystrophy 2 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157 0.00485
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_020800.3(IFT80):c.777+20A>G rs192387448 0.00217
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_020800.3(IFT80):c.758G>A (p.Arg253His) rs144738877 0.00015
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_020800.3(IFT80):c.440-12T>G rs748442129 0.00001
NM_020800.3(IFT80):c.1326C>G (p.Leu442=) rs886058131
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141

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