ClinVar Miner

Variants in gene combination EYS, PHF3 with conflicting interpretations reported as "likely benign and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser) rs553840761 0.00101
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387 0.00026
NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu) rs374161234 0.00004
NM_001142800.2(EYS):c.8337C>T (p.Asn2779=) rs745351348 0.00001
NM_001142800.2(EYS):c.8634C>T (p.Ala2878=) rs763174826 0.00001
NM_001142800.2(EYS):c.9156T>C (p.Asn3052=) rs1768354975

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