ClinVar Miner

List of variants in gene TSC2 reported by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492 0.00001
NM_000548.5(TSC2):c.1045_1083del (p.Tyr349_Leu361del)
NM_000548.5(TSC2):c.109G>T (p.Glu37Ter)
NM_000548.5(TSC2):c.1985C>T (p.Pro662Leu) rs2088455520
NM_000548.5(TSC2):c.2024C>A (p.Ala675Glu)
NM_000548.5(TSC2):c.2090T>C (p.Leu697Ser) rs2088487335
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro) rs397515303
NM_000548.5(TSC2):c.2545+4A>G rs2088951100
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) rs45476100
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.440_441del (p.Thr147fs) rs137854292
NM_000548.5(TSC2):c.4439dup (p.Leu1480fs)
NM_000548.5(TSC2):c.488T>C (p.Phe163Ser) rs1596270677
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn) rs137854882
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.775-1G>C rs45454192
NM_000548.5(TSC2):c.975+1G>A rs137854200

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.