ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Baylor Genetics

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000054.6(AVPR2):c.335G>T (p.Cys112Phe) rs1057518723
NM_000489.5(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) rs1057518718
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001356.4(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup) rs1602134468
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His) rs1057518704
NM_181672.3(OGT):c.2795C>T (p.Thr932Ile) rs1602155923

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