ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala)
NM_000489.5(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.5(ATRX):c.2150C>T (p.Pro717Leu) rs372617572
NM_000489.5(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_001008537.3(NEXMIF):c.2995_2996CT[2] (p.Ser1000fs) rs875989829
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001356.4(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.4(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn) rs869312676
NM_003588.3(CUL4B):c.2577G>C (p.Lys859Asn) rs1556181426
NM_004187.4(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.27-6C>G rs267608411
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) rs1569481124
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys) rs879255530
NM_005249.5(FOXG1):c.821G>A (p.Arg274Gln) rs869312700
NM_007325.5(GRIA3):c.466T>C (p.Tyr156His) rs144902457
NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg) rs189437004
NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln) rs869312679
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter)
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile)

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