ClinVar Miner

List of variants in gene CTC1 reported as likely benign for Dyskeratosis congenita

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Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP
NM_025099.6(CTC1):c.*1103C>A
NM_025099.6(CTC1):c.*1105G>A rs141632364
NM_025099.6(CTC1):c.*1205T>G rs183725401
NM_025099.6(CTC1):c.*1369A>G
NM_025099.6(CTC1):c.*1474G>C rs78517666
NM_025099.6(CTC1):c.*1477G>A
NM_025099.6(CTC1):c.*1477G>C
NM_025099.6(CTC1):c.*1477G>T rs112336268
NM_025099.6(CTC1):c.*1486C>T rs574706247
NM_025099.6(CTC1):c.*1663G>A rs552635622
NM_025099.6(CTC1):c.*2106G>T rs192934640
NM_025099.6(CTC1):c.*2115C>G rs187344168
NM_025099.6(CTC1):c.*3255G>C
NM_025099.6(CTC1):c.*327C>T rs569217905
NM_025099.6(CTC1):c.*460C>T
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421
NM_025099.6(CTC1):c.1068A>G (p.Leu356=) rs756221416
NM_025099.6(CTC1):c.1107C>T (p.Pro369=) rs576049782
NM_025099.6(CTC1):c.1207-4C>T rs369904656
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319
NM_025099.6(CTC1):c.1366C>T (p.Leu456=) rs529158574
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.1530C>T (p.Thr510=) rs376217684
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738
NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn) rs568980956
NM_025099.6(CTC1):c.1794G>A (p.Leu598=) rs1171819624
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691
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.198-4A>G rs1597389646
NM_025099.6(CTC1):c.204C>T (p.Val68=) rs767705861
NM_025099.6(CTC1):c.2178C>T (p.His726=) rs201146538
NM_025099.6(CTC1):c.228C>T (p.His76=) rs531109382
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256
NM_025099.6(CTC1):c.2370C>T (p.Asp790=) rs765241138
NM_025099.6(CTC1):c.2472C>G (p.Pro824=) rs558802130
NM_025099.6(CTC1):c.2476-7C>T rs189539795
NM_025099.6(CTC1):c.2508C>G (p.Ser836=) rs146214808
NM_025099.6(CTC1):c.258G>A (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.2670-7C>T rs750034989
NM_025099.6(CTC1):c.2697C>T (p.Ser899=) rs551850837
NM_025099.6(CTC1):c.2739G>A (p.Ala913=) rs745541560
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008
NM_025099.6(CTC1):c.3074C>T (p.Ala1025Val) rs183966301
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242
NM_025099.6(CTC1):c.3222-4A>G rs562479062
NM_025099.6(CTC1):c.3384T>C (p.Leu1128=) rs945189616
NM_025099.6(CTC1):c.34-9T>G rs201195157
NM_025099.6(CTC1):c.3432A>C (p.Thr1144=) rs1285633618
NM_025099.6(CTC1):c.3495G>A (p.Pro1165=) rs556097361
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127
NM_025099.6(CTC1):c.3515-10C>T rs200225342
NM_025099.6(CTC1):c.3567C>T (p.His1189=) rs374942931
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464
NM_025099.6(CTC1):c.903C>T (p.Thr301=) rs1597385951

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