ClinVar Miner

List of variants reported as pathogenic for Pulmonary fibrosis

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_002582.4(PARN):c.1330C>T (p.Arg444Cys) rs765981944 0.00004
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.1596-2A>G rs2517117939
NM_001283009.2(RTEL1):c.2005C>T (p.Gln669Ter) rs1555811762
NM_001283009.2(RTEL1):c.699+1G>T rs2517017188
NM_002582.4(PARN):c.246-2A>G rs751381953
NM_002582.4(PARN):c.529C>T (p.Gln177Ter) rs876661305
NM_002582.4(PARN):c.656G>A (p.Trp219Ter) rs2508334817
NM_002582.4(PARN):c.781C>T (p.Gln261Ter) rs1971042698
NM_138386.3(NAF1):c.1123C>T (p.Arg375Ter) rs1414961716
NM_198253.3(TERT):c.2583-2A>T rs111576740

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