List of variants in gene TSC2 reported as likely pathogenic for central nervous system malformation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter)	rs397514897
NM_000548.5(TSC2):c.138+5G>A	rs45481400
NM_000548.5(TSC2):c.225+1G>A	rs1567387207
NM_000548.5(TSC2):c.2318dup (p.Leu773fs)	rs1596350476
NM_000548.5(TSC2):c.2545+5G>C	rs1131691965
NM_000548.5(TSC2):c.2640-2A>G	rs137854380
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)	rs397515087
NM_000548.5(TSC2):c.3284+1dup
NM_000548.5(TSC2):c.3824del (p.Phe1275fs)	rs1185513978
NM_000548.5(TSC2):c.4146del (p.Ser1383fs)
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)	rs45471896
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)	rs1060499676
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro)	rs2151631825

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