ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 3
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HGVS dbSNP
NM_017739.3(POMGNT1):c.1924A>G (p.Ile642Val) rs757749808
NM_017739.3(POMGNT1):c.1924A>T (p.Ile642Phe)
NM_017739.3(POMGNT1):c.415G>C (p.Ala139Pro) rs764809782

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