ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp) rs2068193669
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs) rs606231193
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs) rs1057519396
NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His) rs2147617004
NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg) rs2148016775
NM_001110792.2(MECP2):c.1147dup (p.His383fs) rs1057519404
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser) rs267608399
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly) rs1928395285
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp) rs2063923749
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs) rs2063876393
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg) rs2063876594
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu) rs2147404496
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys) rs886037836
NM_004187.5(KDM5C):c.2622+2dup rs1057519393
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His) rs2067475470
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser) rs2092334822
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg) rs2092347481
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) rs2057892972
NM_007363.5(NONO):c.201_202dup (p.Lys68fs) rs2148033408
NM_007363.5(NONO):c.279_282del (p.Phe94fs) rs2148033495
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763

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