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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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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.396-26C>T	rs80224512	0.00003
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	rs370343781	0.00001
NM_001283009.2(RTEL1):c.1191+1G>C	rs2090461817
NM_001283009.2(RTEL1):c.1236_1266+47del	rs1568703403
NM_001283009.2(RTEL1):c.1482-1G>A	rs863225129
NM_001283009.2(RTEL1):c.2265+1G>T	rs2145431062
NM_001283009.2(RTEL1):c.2413+1G>C	rs776744306
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs)	rs1449687529
NM_001283009.2(RTEL1):c.2851+1G>A	rs1421904176
NM_001283009.2(RTEL1):c.3110-2A>C	rs377461417
NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser)	rs1555899096
NM_001283009.2(RTEL1):c.901_919+72del	rs1569090870

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