ClinVar Miner

List of variants in gene ESCO2 reported as benign by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys) rs144288263 0.00277
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014

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