List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as benign for Dyskeratosis congenita

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=)	rs3208007	0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His)	rs3208008	0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=)	rs6062302	0.81476
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=)	rs2236506	0.79477
NM_001283009.2(RTEL1):c.3499+5G>T	rs41309931	0.10067
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=)	rs73920935	0.08708
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=)	rs61753459	0.06433
NM_001283009.2(RTEL1):c.879T>C (p.Gly293=)	rs6010616	0.05825
NM_001283009.2(RTEL1):c.371A>G (p.Asn124Ser)	rs3848668	0.05764
NM_001283009.2(RTEL1):c.786G>A (p.Ser262=)	rs6011020	0.05175
NM_001283009.2(RTEL1):c.1482-6G>A	rs76364377	0.04646
NM_001283009.2(RTEL1):c.2823G>C (p.Glu941Asp)	rs61736614	0.03406
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=)	rs41310197	0.02889
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His)	rs115610405	0.01644
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln)	rs35640778	0.01190
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp)	rs190887884	0.01112
NM_001283009.2(RTEL1):c.103-6G>A	rs57695352	0.00707
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=)	rs12480346	0.00414
NM_001283009.2(RTEL1):c.1953C>T (p.Arg651=)	rs79210260	0.00411
NM_001283009.2(RTEL1):c.396-37C>T	rs41297642	0.00322
NM_001283009.2(RTEL1):c.301+7C>T	rs200648296	0.00276
NM_001283009.2(RTEL1):c.3823-5C>G	rs141522376	0.00252
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=)	rs41306796	0.00207
NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr)	rs115303435	0.00112
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=)	rs12625047	0.00086
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)	rs199834369	0.00055
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=)	rs188479221	0.00032
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser)	rs145845927	0.00030
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=)	rs3848672

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