ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as pathogenic by OMIM

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.1773G>T (p.Glu591Asp) rs398123051
NM_001283009.2(RTEL1):c.1861G>A (p.Ala621Thr) rs398123052
NM_001283009.2(RTEL1):c.2005C>T (p.Gln669Ter) rs1555811762
NM_001283009.2(RTEL1):c.2097C>G (p.Ile699Met) rs398123048
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2216G>T (p.Gly739Val) rs398123016
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del) rs863225053
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) rs786205702
NM_001283009.2(RTEL1):c.602del (p.Gly201fs) rs863223336
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019

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