ClinVar Miner

List of variants reported as uncertain significance for Dyskeratosis congenita by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
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HGVS dbSNP
NM_025099.6(CTC1):c.*1042T>C
NM_025099.6(CTC1):c.*1046T>C rs550911189
NM_025099.6(CTC1):c.*1052T>G
NM_025099.6(CTC1):c.*1053T>C
NM_025099.6(CTC1):c.*1061C>T
NM_025099.6(CTC1):c.*1102C>T rs3027249
NM_025099.6(CTC1):c.*1107A>G rs573286497
NM_025099.6(CTC1):c.*1125G>C
NM_025099.6(CTC1):c.*1130G>C rs375962823
NM_025099.6(CTC1):c.*1134G>A rs754222087
NM_025099.6(CTC1):c.*1148C>A rs534594967
NM_025099.6(CTC1):c.*1156G>A rs538807522
NM_025099.6(CTC1):c.*1166C>T rs753309673
NM_025099.6(CTC1):c.*1176C>T rs149513613
NM_025099.6(CTC1):c.*1177C>T rs886053604
NM_025099.6(CTC1):c.*1188C>T
NM_025099.6(CTC1):c.*1191T>A rs540304901
NM_025099.6(CTC1):c.*1191T>C
NM_025099.6(CTC1):c.*1201T>C rs886053603
NM_025099.6(CTC1):c.*1204T>C rs886053602
NM_025099.6(CTC1):c.*1286A>G rs886053601
NM_025099.6(CTC1):c.*1308T>A
NM_025099.6(CTC1):c.*1410A>G
NM_025099.6(CTC1):c.*1420A>T
NM_025099.6(CTC1):c.*1438C>G rs141383858
NM_025099.6(CTC1):c.*1473C>G rs377086928
NM_025099.6(CTC1):c.*1475A>G rs745973862
NM_025099.6(CTC1):c.*1478C>A rs146427367
NM_025099.6(CTC1):c.*1479C>T
NM_025099.6(CTC1):c.*1495G>A rs886053600
NM_025099.6(CTC1):c.*1517G>A
NM_025099.6(CTC1):c.*1531T>C
NM_025099.6(CTC1):c.*1534G>A rs561385282
NM_025099.6(CTC1):c.*1540C>T rs755418655
NM_025099.6(CTC1):c.*1542C>G rs886053599
NM_025099.6(CTC1):c.*1553C>T
NM_025099.6(CTC1):c.*1565A>G rs886053598
NM_025099.6(CTC1):c.*1569C>T rs138405975
NM_025099.6(CTC1):c.*1578T>A
NM_025099.6(CTC1):c.*1600T>A
NM_025099.6(CTC1):c.*1603T>A
NM_025099.6(CTC1):c.*1630G>A
NM_025099.6(CTC1):c.*1711A>G
NM_025099.6(CTC1):c.*1792G>A rs886053595
NM_025099.6(CTC1):c.*1807G>C
NM_025099.6(CTC1):c.*1844G>C rs3027252
NM_025099.6(CTC1):c.*1852G>A rs559541027
NM_025099.6(CTC1):c.*1853G>A rs540866407
NM_025099.6(CTC1):c.*1856C>T rs145845338
NM_025099.6(CTC1):c.*1857C>T rs886053594
NM_025099.6(CTC1):c.*1861A>G rs868663416
NM_025099.6(CTC1):c.*1867G>A
NM_025099.6(CTC1):c.*1868C>A
NM_025099.6(CTC1):c.*1900C>A
NM_025099.6(CTC1):c.*1913A>G
NM_025099.6(CTC1):c.*1930A>G rs780992571
NM_025099.6(CTC1):c.*1933C>T
NM_025099.6(CTC1):c.*1936A>G rs767476369
NM_025099.6(CTC1):c.*1939G>A rs886053593
NM_025099.6(CTC1):c.*1964G>A
NM_025099.6(CTC1):c.*1994A>G
NM_025099.6(CTC1):c.*2007A>G rs886053591
NM_025099.6(CTC1):c.*2013G>A rs886053590
NM_025099.6(CTC1):c.*2070G>A
NM_025099.6(CTC1):c.*2090G>A
NM_025099.6(CTC1):c.*2146G>A
NM_025099.6(CTC1):c.*218T>G rs886053607
NM_025099.6(CTC1):c.*2242G>A
NM_025099.6(CTC1):c.*2296T>A rs777042904
NM_025099.6(CTC1):c.*2337G>A
NM_025099.6(CTC1):c.*234C>T rs570408909
NM_025099.6(CTC1):c.*2353A>G rs559152657
NM_025099.6(CTC1):c.*2425T>C
NM_025099.6(CTC1):c.*2498G>A
NM_025099.6(CTC1):c.*2530G>A
NM_025099.6(CTC1):c.*2536C>T
NM_025099.6(CTC1):c.*2685C>T rs886053588
NM_025099.6(CTC1):c.*2725T>A
NM_025099.6(CTC1):c.*274C>T
NM_025099.6(CTC1):c.*2784G>A rs886053587
NM_025099.6(CTC1):c.*2842G>A
NM_025099.6(CTC1):c.*286G>A rs886053606
NM_025099.6(CTC1):c.*2926G>C
NM_025099.6(CTC1):c.*305G>A
NM_025099.6(CTC1):c.*3079C>T
NM_025099.6(CTC1):c.*3186G>A rs8072826
NM_025099.6(CTC1):c.*3198G>T rs568877108
NM_025099.6(CTC1):c.*384G>A
NM_025099.6(CTC1):c.*429C>T
NM_025099.6(CTC1):c.*445A>T
NM_025099.6(CTC1):c.*474G>A
NM_025099.6(CTC1):c.*509C>T
NM_025099.6(CTC1):c.*536T>G rs533538191
NM_025099.6(CTC1):c.*558G>A rs112446369
NM_025099.6(CTC1):c.*642A>G
NM_025099.6(CTC1):c.*64T>G rs886053609
NM_025099.6(CTC1):c.*65C>A rs886053608
NM_025099.6(CTC1):c.*663G>A
NM_025099.6(CTC1):c.*759A>G
NM_025099.6(CTC1):c.*797C>T rs142486253
NM_025099.6(CTC1):c.*808G>A
NM_025099.6(CTC1):c.*825C>T rs3027248
NM_025099.6(CTC1):c.-10C>T rs201782976
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His)
NM_025099.6(CTC1):c.1207-4C>T rs369904656
NM_025099.6(CTC1):c.1231T>A (p.Ser411Thr) rs765850921
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu)
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly) rs201280372
NM_025099.6(CTC1):c.1440-5C>T
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738
NM_025099.6(CTC1):c.1819-14T>G rs753627056
NM_025099.6(CTC1):c.1946-6C>T rs369285521
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys)
NM_025099.6(CTC1):c.2060+12G>A
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953
NM_025099.6(CTC1):c.2253A>G (p.Gly751=)
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp)
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn)
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys)
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730
NM_025099.6(CTC1):c.2472C>T (p.Pro824=)
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612
NM_025099.6(CTC1):c.2831C>T (p.Pro944Leu)
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008
NM_025099.6(CTC1):c.3024C>G (p.Pro1008=)
NM_025099.6(CTC1):c.3104del (p.Phe1035fs) rs1567599198
NM_025099.6(CTC1):c.3136del (p.Cys1046fs) rs1223080335
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser)
NM_025099.6(CTC1):c.3221+5G>C
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165
NM_025099.6(CTC1):c.33C>T (p.Ser11=) rs757066174
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu)
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile)
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.596C>T (p.Thr199Met) rs747323535
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527
NM_025099.6(CTC1):c.780C>T (p.Ser260=)
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464
NM_025099.6(CTC1):c.8C>T (p.Ala3Val) rs923853643
NM_025099.6(CTC1):c.917G>A (p.Arg306His)
NM_025099.6(CTC1):c.917G>T (p.Arg306Leu)

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