ClinVar Miner

List of variants studied for X-linked disease by Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) rs1135401795
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) rs878853263
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004595.5(SMS):c.908_911del (p.Met303fs) rs1602220706
NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser) rs1135401788

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