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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
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.458_459del (p.Gln153fs)	rs773025155	0.00001
NM_001283009.2(RTEL1):c.1266+3_1266+80del	rs2090574236
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del)	rs863225053
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter)	rs906116592
NM_001283009.2(RTEL1):c.2908C>T (p.Gln970Ter)
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter)	rs2090929102

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