ClinVar Miner

List of variants in gene combination CTC1, PFAS reported as uncertain significance for Coats plus syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) rs201280372 0.00140
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly) rs201280372
NM_025099.6(CTC1):c.14G>A (p.Arg5Gln) rs1449419140
NM_025099.6(CTC1):c.33C>T (p.Ser11=) rs757066174
NM_025099.6(CTC1):c.8C>T (p.Ala3Val) rs923853643

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