ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Mendelics

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000052.7(ATP7A):c.1947-1G>A rs794729231
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_003159.2(CDKL5):c.2713+3C>T rs863225289
NM_003159.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_003688.3(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_004992.3(MECP2):c.484A>G (p.Arg162Gly) rs727505391

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