ClinVar Miner

List of variants studied for Tuberous sclerosis 1 by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000368.5(TSC1):c.-144G>A rs796053468 0.00003
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) rs776386313 0.00001
NM_000368.5(TSC1):c.1029+1G>A rs118203485
NM_000368.5(TSC1):c.1389del (p.Gly464fs) rs1588312765
NM_000368.5(TSC1):c.1515_1516del (p.Pro506fs) rs281875358
NM_000368.5(TSC1):c.1997+1G>T rs118203610
NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter) rs1554815454
NM_000368.5(TSC1):c.2440del (p.Glu813_Leu814insTer) rs1588299201
NM_000368.5(TSC1):c.2503-2A>G rs118203704
NM_000368.5(TSC1):c.2626-3_2626-2insT rs760737807
NM_000368.5(TSC1):c.461del (p.Phe154fs) rs1588350477
NM_000368.5(TSC1):c.492G>A (p.Trp164Ter) rs1554819870
NM_000368.5(TSC1):c.998del (p.Pro333fs) rs1564488773

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.