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

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: 30

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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.3110-2A>T	rs377461417	0.00006
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	rs398123018	0.00003
NM_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter)	rs778734749	0.00003
NM_001283009.2(RTEL1):c.1037+1G>T	rs895722334	0.00001
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)	rs377024903	0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)	rs961593162	0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)	rs773025155	0.00001
NM_001283009.2(RTEL1):c.1596-1G>A	rs1555811386
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs)	rs1555811742
NM_001283009.2(RTEL1):c.2021dup (p.Gln675fs)	rs1263776141
NM_001283009.2(RTEL1):c.2265+2T>A	rs1555811966
NM_001283009.2(RTEL1):c.2414-2A>G	rs1555812178
NM_001283009.2(RTEL1):c.2533del (p.Ala845fs)	rs1555812228
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs)	rs752833281
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs)	rs1555812480
NM_001283009.2(RTEL1):c.2653-2A>C	rs1555812834
NM_001283009.2(RTEL1):c.2851+1G>T	rs1421904176
NM_001283009.2(RTEL1):c.2858del (p.Tyr953fs)	rs1555813123
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)	rs1555813144
NM_001283009.2(RTEL1):c.3104dup (p.Thr1036fs)	rs1555814044
NM_001283009.2(RTEL1):c.3110-2A>C	rs377461417
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter)	rs1415449695
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs)	rs1555814334
NM_001283009.2(RTEL1):c.3344-2A>G	rs980695424
NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter)	rs1161373315
NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter)	rs1555901000
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)	rs780546933
NM_001283009.2(RTEL1):c.897del (p.Phe299fs)	rs1555901832

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