ClinVar Miner

Variants in gene CRB1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_201253.3(CRB1):c.2128+15A>C rs75691013 0.01643
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) rs115400822 0.00021
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) rs780576185 0.00005
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) rs535494663

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