ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by SingHealth Duke-NUS Institute of Precision Medicine

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.789_790AG[1] (p.Glu264fs) rs1569191879
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_001166158.1(PDHX):c.-197del rs1158194122

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