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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)	rs45438205	0.00001
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile)	rs745895675	0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)	rs45517395	0.00001
NM_000548.5(TSC2):c.1458del (p.Ser487fs)	rs1567437155
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	rs45517179
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)	rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	rs28934872
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)	rs45517222
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)	rs45517258
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)	rs45517259
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)	rs45465195
NM_000548.5(TSC2):c.3397+1G>A	rs137854208
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)	rs45451497
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)	rs137853993
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)	rs45517329
NM_000548.5(TSC2):c.4351del (p.Arg1451fs)	rs397514939
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)	rs45517348
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)	rs45516293
NM_000548.5(TSC2):c.4582G>T (p.Glu1528Ter)
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)	rs45483392
NM_000548.5(TSC2):c.5160+1G>A	rs45517399
NM_000548.5(TSC2):c.5161-1G>A	rs45517404
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)	rs45517412
NM_000548.5(TSC2):c.976-15G>A	rs45517150

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