ClinVar Miner

List of variants in gene RTEL1, RTEL1-TNFRSF6B studied for Dyskeratosis congenita

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Total variants: 12
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HGVS dbSNP
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_016434.3(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017
NM_032957.4(RTEL1):c.102+2T>C rs1555899111
NM_032957.4(RTEL1):c.1207+1G>A rs1555903332
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.3442del (p.His1148fs) rs1555814400
NM_032957.4(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096

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