ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Athena Diagnostics Inc

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362
NM_004992.3(MECP2):c.1157_1200del (p.Leu386fs) rs63749748
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.784C>T (p.Gln262Ter) rs267608525
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241

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