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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter)	rs1588355838
NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter)	rs546643996
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys)	rs1554786802
NM_012470.4(TNPO3):c.2767del (p.Arg923fs)	rs1563083759
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)	rs869320701

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