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 (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_000273.3(GPR143):c.360+2T>C rs2146700764
NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs) rs2147807115
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
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_001039591.3(USP9X):c.1812_1815del (p.Gln605fs) rs2147080697
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs) rs1556880284
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter) rs2147340483
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) rs878853263
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
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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