ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NC_000023.11:g.78195010_79012636del817627
NM_000266.3(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_000276.3(OCRL):c.2299C>T (p.Gln767Ter) rs794727333
NM_000276.3(OCRL):c.2563delG (p.Val855Serfs) rs398123288
NM_000276.3(OCRL):c.2582-1G>A rs398123289
NM_000276.3(OCRL):c.909_910delAG (p.Gly304Phefs) rs398123290
NM_000276.3(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_001110556.1(FLNA):c.3153dupC (p.Val1052Argfs) rs398123616
NM_001110556.1(FLNA):c.4543C>T (p.Arg1515Ter) rs186214592
NM_001110556.1(FLNA):c.5854delG (p.Val1952Serfs) rs797044724
NM_001110556.1(FLNA):c.7757-1G>C rs797044496
NM_001110792.1(MECP2):c.1202_1203insC (p.Pro402Serfs) rs797044733
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001456.3(FLNA):c.7527_7528+6delAGGTGAGC rs398123623
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.468C>G (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.611C>G (p.Ser204Ter) rs61749724
NM_004992.3(MECP2):c.683C>G (p.Thr228Ser) rs61749738
NM_004992.3(MECP2):c.730C>T (p.Gln244Ter) rs61749747
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.806delG (p.Gly269Alafs) rs61750241
NM_004992.3(MECP2):c.808C>T (p.Arg270Ter) rs61750240
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_005120.2(MED12):c.4669T>C (p.Trp1557Arg) rs794727576

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