ClinVar Miner

List of variants in gene ENG reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) rs2131885848
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe) rs1830599119
NM_001114753.3(ENG):c.781T>G (p.Trp261Gly) rs1554810223
NM_001114753.3(ENG):c.788T>G (p.Ile263Ser) rs1085307431

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