ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000284.3(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.3(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_001110792.1(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001415.3(EIF2S3):c.431C>T (p.Thr144Ile) rs751468976
NM_003159.2(CDKL5):c.554+1G>A rs1555950083

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