ClinVar Miner

List of variants reported as pathogenic for Tuberous sclerosis 2 by Mendelics

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Total variants: 14
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HGVS dbSNP
NM_000548.5(TSC2):c.139-1G>A rs1567386603
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1717-2A>C rs1596335963
NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter) rs751172150
NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter) rs1596356898
NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs) rs1596382268
NM_000548.5(TSC2):c.3669del (p.Asn1224fs) rs137854223
NM_000548.5(TSC2):c.4005+1G>A rs45517324
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter) rs1555497641
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter) rs397514976
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs) rs137854132
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro) rs397515159
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.975+1G>T rs137854200

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