ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NC_000023.11:g.129569295C>T
NC_000023.11:g.153694343del
NC_000023.11:g.153694825C>A
NC_000023.11:g.41344090_41344091AG[2]
NC_000023.11:g.41344097dup
NC_000023.11:g.41344261G>C
NC_000023.11:g.41346570dup
NC_000023.11:g.53201854C>A
NC_000023.11:g.63665992G>A
NC_000023.11:g.71129143G>T
NC_000023.11:g.74520998G>A
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000533.5(PLP1):c.617T>G (p.Met206Arg) rs1556269487
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs) rs1556016224
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001079872.1(CUL4B):c.1396C>T
NM_001146702.1(KDM5C):c.388dupC
NM_001164617.2(GPC3):c.1563C>A (p.Cys521Ter) rs753210097
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009
NM_001356.4(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.4(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_003588.3(CUL4B):c.1007_1011del (p.Ile336fs) rs1085307760
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.3(OFD1):c.1061_1065del (p.Gln354fs) rs1555904480
NM_003611.3(OFD1):c.112-2del rs1555900675
NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro) rs1555900734
NM_003611.3(OFD1):c.344T>A (p.Ile115Asn) rs1555901137
NM_003611.3(OFD1):c.412+1G>T rs1555901169
NM_004187.4(KDM5C):c.1795C>T (p.Arg599Cys) rs1556842184
NM_004429.4(EFNB1):c.499+1G>A rs1556107481
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile) rs1325953089
NM_004606.4(TAF1):c.4286C>T (p.Pro1429Leu) rs1555980523
NM_004992.3(MECP2):c.1164_1199delinsT (p.Pro389fs) rs1557135346
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) rs1363308293
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_015107.3(PHF8):c.2444-2A>G
NM_015185.3(ARHGEF9):c.899G>A (p.Trp300Ter) rs1556358991
NM_198270.4(NHS):c.1117C>T (p.Arg373Ter) rs132630322

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.