ClinVar Miner

List of variants studied for X-linked disease by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000489.5(ATRX):c.4558-3T>G rs1602996115
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001356.4(DDX3X):c.1600C>G (p.Arg534Gly) rs1555954284
NM_001356.4(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del) rs1601954686
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter) rs1601953552
NM_004586.3(RPS6KA3):c.1959+2dup rs1057518853
NM_004595.5(SMS):c.410A>G (p.Asp137Gly)
NM_005249.5(FOXG1):c.759C>A (p.Asn253Lys)

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