ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 8
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NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_016434.3(RTEL1):c.1482-1G>A rs863225129
NM_016434.3(RTEL1):c.2413+1G>C rs776744306
NM_016434.3(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_032957.4(RTEL1):c.1548G>T (p.Met516Ile) rs370343781
NM_032957.4(RTEL1):c.2941C>T (p.Arg981Trp) rs398123018
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_032957.4(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096

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