ClinVar Miner

List of variants reported as benign for Asphyxiating thoracic dystrophy 2 by Illumina Laboratory Services, Illumina

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728 0.31629
NM_020800.3(IFT80):c.1926+13T>C rs3737214 0.17528
NM_020800.3(IFT80):c.*42G>A rs16831149 0.16470
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_020800.3(IFT80):c.-40C>T rs79756374 0.01997
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_020800.3(IFT80):c.*1204G>A rs144132950 0.00376

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