ClinVar Miner

List of variants reported as uncertain significance by Medical Genetics Laboratory, Tarbiat Modares University

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001124758.3(SPNS2):c.487G>A (p.Asp163Asn)
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) rs2039065206
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) rs796952533
NM_018367.7(ACER3):c.292T>C (p.Tyr98His) rs1948442632
NM_018367.7(ACER3):c.53T>C (p.Leu18Pro) rs1944923735

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