ClinVar Miner

List of variants studied for X-linked disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg) rs189437004 0.00009
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln) rs149595793 0.00007
NM_007325.5(GRIA3):c.466T>C (p.Tyr156His) rs144902457 0.00005
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_139058.3(ARX):c.166A>G (p.Ser56Gly) rs144098296 0.00003
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln) rs869312679 0.00001
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile) rs782119109 0.00001
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000381.4(MID1):c.1495G>A (p.Val499Met) rs868016081
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg) rs2148625660
NM_000489.6(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs) rs875989829
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly) rs2063039248
NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn) rs1556181426
NM_001081550.2(THOC2):c.2366G>A (p.Ser789Asn)
NM_001110556.2(FLNA):c.623-8C>A rs111542756
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser) rs1602257111
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln)
NM_001278116.2(L1CAM):c.1268-1G>A rs1603275538
NM_001330360.2(POLA1):c.3046A>G (p.Thr1016Ala) rs2045884607
NM_001356.5(DDX3X):c.1171-2A>C rs2147356545
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_001367721.1(CASK):c.1997dup (p.Asn666fs) rs1602253464
NM_002139.4(RBMX):c.287C>T (p.Pro96Leu)
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn) rs869312676
NM_002578.5(PAK3):c.988G>A (p.Asp330Asn) rs1603373843
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met) rs2148650076
NM_004595.5(SMS):c.329G>A (p.Arg110Gln) rs2147513193
NM_004606.5(TAF1):c.2498_2500del (p.Lys833_Ala834delinsThr) rs2148336854
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) rs1569481124
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile) rs2148553327
NM_007363.5(NONO):c.1131G>A (p.Ala377=) rs869025343
NM_012216.4(MID2):c.448G>T (p.Ala150Ser) rs375785745
NM_012310.5(KIF4A):c.1015A>G (p.Lys339Glu) rs2147691521
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
NM_022101.4(STEEP1):c.229_230del (p.Met77fs)
NM_030624.3(KLHL15):c.391G>A (p.Glu131Lys) rs1602008532
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.8974C>G (p.Arg2992Gly) rs1401359685

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