ClinVar Miner

List of variants in gene TSC1 studied for History of neurodevelopmental disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_000368.4(TSC1):c.1123A>G (p.Lys375Glu) rs1564487989
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.1219G>A (p.Val407Met) rs769331772
NM_000368.4(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.4(TSC1):c.1585G>A (p.Ala529Thr) rs751125011
NM_000368.4(TSC1):c.1591G>A (p.Val531Met)
NM_000368.4(TSC1):c.1679G>A (p.Gly560Asp) rs1395737285
NM_000368.4(TSC1):c.172T>C (p.Leu58=) rs1564503254
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2361G>C (p.Glu787Asp) rs1564477079
NM_000368.4(TSC1):c.2380C>A (p.Gln794Lys)
NM_000368.4(TSC1):c.2478G>C (p.Leu826=) rs149719514
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349
NM_000368.4(TSC1):c.3234G>A (p.Val1078=) rs1564470051
NM_000368.4(TSC1):c.782A>G (p.Lys261Arg) rs371225009
NM_000368.4(TSC1):c.997C>T (p.Pro333Ser) rs1057520994

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.