ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Center for Human Genetics, Inc

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_000489.5(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.5(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000533.5(PLP1):c.518C>G (p.Pro173Arg) rs1556269029
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter) rs1160828151
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs) rs1555924704
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter) rs1555943484
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter) rs1555943479
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp) rs1555939335
NM_004586.3(RPS6KA3):c.774+1G>C rs1555939331
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del) rs1555933769
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.756_759del (p.Arg253fs) rs267608523
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.808del (p.Arg270fs) rs62931162
NM_004992.3(MECP2):c.840del (p.Ala281fs) rs1557136332
NM_004992.3(MECP2):c.854del (p.Lys285fs) rs267608531
NM_004992.3(MECP2):c.862G>A (p.Val288Met) rs782455664
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.460_462GAG[1] (p.Glu155del) rs1175471807
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005710.2(PQBP1):c.397C>T (p.Arg133Trp) rs201489630

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