ClinVar Miner

List of variants in gene CTC1 studied for Coats plus syndrome

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_025099.5(CTC1):c.1058del (p.Ser353Leufs) rs199473675
NM_025099.5(CTC1):c.1213delG (p.Asp405Metfs) rs1444923772
NM_025099.5(CTC1):c.1958G>A (p.Arg653Gln) rs775779700
NM_025099.5(CTC1):c.2767G>T (p.Gly923Trp) rs771646414
NM_025099.5(CTC1):c.2831delC (p.Pro944Leufs) rs199473677
NM_025099.5(CTC1):c.2954_2956delGTT (p.Cys985del) rs199473679
NM_025099.5(CTC1):c.724_727delAAAG (p.Lys242Leufs) rs199473674
NM_025099.5(CTC1):c.862G>A (p.Val288Met) rs201553464
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859
NM_025099.6(CTC1):c.2611G>A (p.Val871Met) rs369255297
NM_025099.6(CTC1):c.2758+1G>T rs200609323
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613
NM_025099.6(CTC1):c.2996dup (p.Glu1000Terfs)
NM_025099.6(CTC1):c.3425T>A (p.Leu1142His) rs201455840
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter) rs199473682
NM_025099.6(CTC1):c.680C>T (p.Ala227Val) rs199473673
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter) rs397514660

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