ClinVar Miner

List of variants reported as likely pathogenic by Department of Medical Genetics,University of Pecs

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Total variants: 4
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HGVS dbSNP
NM_000368.4(TSC1):c.232G>T (p.Glu78Ter) rs1588355838
NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter) rs546643996
NM_012470.3(TNPO3):c.2767del (p.Arg923fs) rs1563083759
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val) rs869320701

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