ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter) rs891068548
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter) rs2073481839
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs) rs2080109236
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter) rs2147439364
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter) rs2068650679
NM_004606.5(TAF1):c.3407-1G>A
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter) rs2147870607
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
NM_007363.5(NONO):c.322_348+280del rs2148033540
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768

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