ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter) rs398123287
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs) rs1556016224
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs) rs1556880284
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) rs132630322
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) rs878853263
NM_003588.3(CUL4B):c.1007_1011del (p.Ile336fs) rs1085307760
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.3(OFD1):c.344T>A (p.Ile115Asn) rs1555901137
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) rs1603217815
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg) rs1602140936
NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_033380.3(COL4A5):c.438+1G>A rs1603279819

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