ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001037343.1:c.100-?_744+?dup
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)
NM_001111125.3(IQSEC2):c.738-1G>A
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001353921.2(ARHGEF9):c.1078-3T>G
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_003688.3(CASK):c.359A>G (p.His120Arg) rs1602550687
NM_004187.5(KDM5C):c.100del (p.Ile34fs)
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg)
NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn)

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