ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_003688.3:c.116_117delCA
NM_004429.4(EFNB1):c.561del (p.Asn187fs) rs1057519035
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204

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