ClinVar Miner

List of variants studied for X-linked disease by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (311):
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Total variants: 17
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HGVS dbSNP
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000202.8(IDS):c.613G>A (p.Ala205Thr)
NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter) rs1114167289
NM_001195553.2(DCX):c.190T>A (p.Tyr64Asn) rs1556405129
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg) rs1484399991
NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.4(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_001363819.1(DDX3X):c.-367dup rs1057519431
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.892dup (p.Cys298fs) rs1557189608
NM_005710.2(PQBP1):c.463C>T (p.Arg155Ter)
NM_153252.5(BRWD3):c.592-3T>C
NM_203473.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
Single allele

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