ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg) rs1484399991
NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.4(DDX3X):c.192dup (p.Asp65fs) rs1057519431
NM_001356.4(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398
NM_032335.3(PHF6):c.255C>A (p.Cys85Ter) rs1114167289
NM_178152.3(DCX):c.190T>A (p.Tyr64Asn) rs1556405129
NM_203473.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
Single allele

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