ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Broad Institute Rare Disease Group,Broad Institute

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001195553.2(DCX):c.665C>T (p.Thr222Ile) rs1603423268
NM_003688.3(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_003688.3(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_003688.3(CASK):c.764G>A (p.Arg255His) rs587783369
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634

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