ClinVar Miner

List of variants reported as likely pathogenic by Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University

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Total variants: 9
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NM_000053.4(ATP7B):c.1841G>A (p.Gly614Asp)
NM_000548.5(TSC2):c.1856TGC[2] (p.Leu621del) rs397515195
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser) rs45489791
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly) rs45517412
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218

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