ClinVar Miner

List of variants in gene CTC1 reported as likely pathogenic for congenital vitreoretinal dysplasia

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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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.2923A>G (p.Arg975Gly) rs199473678 0.00007
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.2758+1G>T rs200609323 0.00002
NM_025099.6(CTC1):c.1818+1G>A rs773716148 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs) rs773120259
NM_025099.6(CTC1):c.131_134del (p.Asp44fs) rs1250113146
NM_025099.6(CTC1):c.2176del (p.His726fs)
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2831dup (p.His945fs) rs199473677
NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer) rs1567599993
NM_025099.6(CTC1):c.3221+1G>A rs766644829
NM_025099.6(CTC1):c.798_802del (p.Gln268fs)
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291

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