ClinVar Miner

List of variants reported as likely pathogenic for Dyskeratosis congenita, autosomal recessive, 5

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Total variants: 31
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HGVS dbSNP
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_001283010.1(RTEL1):c.-212_-211del rs773025155
NM_016434.3(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_016434.3(RTEL1):c.2021dup (p.Gln675fs) rs1263776141
NM_016434.3(RTEL1):c.2533del (p.Ala845fs) rs1555812228
NM_016434.3(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_016434.3(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_016434.3(RTEL1):c.2858del (p.Tyr953fs) rs1555813123
NM_016434.3(RTEL1):c.3104dup (p.Thr1036fs) rs1555814044
NM_016434.3(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_016434.3(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_032957.4(RTEL1):c.1109+1G>T rs895722334
NM_032957.4(RTEL1):c.1668-1G>A rs1555811386
NM_032957.4(RTEL1):c.2332C>T (p.Arg778Ter) rs377024903
NM_032957.4(RTEL1):c.2337+2T>A rs1555811966
NM_032957.4(RTEL1):c.2486-2A>G rs1555812178
NM_032957.4(RTEL1):c.2686C>T (p.Arg896Ter) rs961593162
NM_032957.4(RTEL1):c.2725-2A>C rs1555812834
NM_032957.4(RTEL1):c.2923+1G>T rs1421904176
NM_032957.4(RTEL1):c.2941C>T (p.Arg981Trp) rs398123018
NM_032957.4(RTEL1):c.2953A>T (p.Lys985Ter) rs1555813144
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_032957.4(RTEL1):c.3182-2A>C rs377461417
NM_032957.4(RTEL1):c.3182-2A>T rs377461417
NM_032957.4(RTEL1):c.3202C>T (p.Gln1068Ter) rs1415449695
NM_032957.4(RTEL1):c.3416-2A>G rs980695424
NM_032957.4(RTEL1):c.3448C>T (p.Gln1150Ter) rs778734749
NM_032957.4(RTEL1):c.597C>A (p.Tyr199Ter) rs1161373315
NM_032957.4(RTEL1):c.702C>A (p.Tyr234Ter) rs1555901000
NM_032957.4(RTEL1):c.721C>T (p.Gln241Ter) rs780546933
NM_032957.4(RTEL1):c.[1346T>C];[3028C>T]

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