ClinVar Miner

List of variants reported as likely 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: 6
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HGVS dbSNP
NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_001356.4(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659

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