ClinVar Miner

List of variants reported as uncertain significance by Shieh Lab, University of California, San Francisco

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.3676del (p.Ile1226fs) rs2148567280
NM_002541.4(OGDH):c.1643G>C (p.Gly548Ala) rs1202469414
NM_015107.3(PHF8):c.1620del (p.Ala541fs) rs2149839580
NM_178138.6(LHX3):c.93_95dup (p.Ala32dup) rs2131036367

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