ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by NeuroMeGen,Hospital Clinico Santiago de Compostela

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000117.2(EMD):c.16del (p.Asp6fs) rs1569552076
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs) rs1557135929
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001195553.2(DCX):c.-22-364C>T rs761786389
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) rs1556389083
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) rs1555976973
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter) rs1555321351
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474

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