ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by NeuroMeGen,Hospital Clinico Santiago de Compostela

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_003159.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_003159.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_004992.3(MECP2):c.1087_1088insC (p.Lys363fs) rs1557135929
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.458G>T (p.Gly153Val) rs1555321286
NM_005249.5(FOXG1):c.655C>G (p.Arg219Gly) rs1555321323
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter) rs1555321351
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_006950.3(SYN1):c.376T>A (p.Trp126Arg) rs1556861783
NM_015185.3(ARHGEF9):c.541G>C (p.Gly181Arg) rs1556389083
NM_178152.3(DCX):c.-22-364C>T rs761786389

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