ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.253+2T>A rs1224040268
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_003688.3(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_004187.4(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter)
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876

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