ClinVar Miner

List of variants reported as likely benign for Dyskeratosis congenita by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 23
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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.*1129A>G
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.126A>G (p.Val42=) rs116271319
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242

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