ClinVar Miner

List of variants reported as pathogenic for Coats plus syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676 0.00026
NM_025099.6(CTC1):c.680C>T (p.Ala227Val) rs199473673 0.00011
NM_025099.6(CTC1):c.2611G>A (p.Val871Met) rs369255297 0.00007
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550 0.00005
NM_025099.6(CTC1):c.3425T>A (p.Leu1142His) rs201455840 0.00005
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter) rs1053748363 0.00004
NM_025099.6(CTC1):c.1058del (p.Ser353fs) rs199473675 0.00003
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter) rs374877315 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025099.6(CTC1):c.1360del (p.Glu454fs) rs748852501 0.00002
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter) rs952398755 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter) rs1987206904 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter) rs397514660 0.00001
NM_015450.3(POT1):c.965C>T (p.Ser322Leu) rs2116484197
NM_024928.5(STN1):c.404G>C (p.Arg135Thr) rs1057519583
NM_024928.5(STN1):c.469G>T (p.Asp157Tyr) rs765462548
NM_025099.6(CTC1):c.1213del (p.Asp405fs) rs1444923772
NM_025099.6(CTC1):c.2346del (p.Leu783fs) rs761076987
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter) rs199473682
NM_025099.6(CTC1):c.371_372dup (p.Glu125fs)
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674

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