ClinVar Miner

List of variants studied for X-linked disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu)
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)
NM_003491.4(NAA10):c.115C>A (p.Pro39Thr) rs1603290816
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter) rs1603422403
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs) rs1603323174

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