ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 7
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HGVS dbSNP
NM_000053.3(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823
NM_000053.3(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.3(ATP7B):c.2715G>C (p.Glu905Asp)
NM_000053.3(ATP7B):c.3550A>G (p.Ile1184Val) rs1057519121
NM_000053.3(ATP7B):c.3557-6C>T rs140708492
NM_000053.3(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969
NM_000053.3(ATP7B):c.3999G>A (p.Leu1333=) rs186435141

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