ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Laboratoire de Cytogenetique,Hospices Civils de Lyon

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter) rs863224146
NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs) rs1569336024
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro) rs1569165417
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) rs201762017
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001184880.2(PCDH19):c.971del (p.Asn324fs) rs1569315169
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_004187.4(KDM5C):c.100del (p.Ile34fs) rs1569285361
NM_004187.4(KDM5C):c.3570_3573del (p.Gly1191fs) rs1569258293
NM_004187.4(KDM5C):c.593G>A (p.Arg198Gln) rs1569279367
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys) rs1569216119
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter) rs869320705
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe) rs1307587368
NM_005120.3(MED12):c.5017_5019AAG[1] (p.Lys1674del)
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg) rs1566445533
NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn) rs1569321518
NM_144495.2(PQBP1):c.293-341AG[4] rs606231193
NM_178152.3(DCX):c.226C>G (p.Arg76Gly) rs587783534

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