ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by GOLD service, Hunter New England Health

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000240.3(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.3(MAOA):c.749_750insT (p.Ser251fs) rs796065311
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) rs1603255389
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp) rs1556023928
NM_001081550.2(THOC2):c.2170A>G (p.Lys724Glu) rs1603252573
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys) rs1603246794
NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) rs1556017474
NM_001081550.2(THOC2):c.3223C>T (p.Arg1075Trp) rs1603242504
NM_001081550.2(THOC2):c.3300G>T (p.Trp1100Cys) rs1603242447
NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu) rs1556015593
NM_001081550.2(THOC2):c.3361A>G (p.Arg1121Gly) rs1556015553
NM_001081550.2(THOC2):c.3503+4A>C rs1556015437
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) rs1556014935
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001081550.2(THOC2):c.4450-2A>G rs1556005930
NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg) rs1603229932
NM_001081550.2(THOC2):c.4678-572_*18+1195del

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.