ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as likely pathogenic for not provided

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter) rs368311594
NM_001283009.2(RTEL1):c.1949dup (p.Arg651fs)
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del) rs863225053
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2908C>T (p.Gln970Ter)
NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter) rs771746222
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870

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