ClinVar Miner

Variants in gene combination ENG, LOC102723566 with conflicting interpretations reported as "likely pathogenic and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) 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_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser) rs1830433526
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644

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