ClinVar Miner

Variants in gene CTC1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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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.775G>A (p.Val259Met) rs387907080 0.00001
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709

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