ClinVar Miner

List of variants studied for X-linked disease by Genomic Medicine Lab, University of California San Francisco

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_000047.3(ARSL):c.898G>A (p.Val300Ile) rs752354785
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) rs1157736285
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_001039591.3(USP9X):c.260del (p.Pro87fs) rs1601957478
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu) rs61754437
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001111125.3(IQSEC2):c.2894T>C (p.Leu965Pro) rs1602268775
NM_001111125.3(IQSEC2):c.808C>T (p.Arg270Trp) rs1602293814
NM_001356.4(DDX3X):c.976C>T (p.Arg326Cys) rs1555953548
NM_002968.2(SALL1):c.602A>G (p.Gln201Arg) rs775143619
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226

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