ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000091.4(COL4A3):c.1381G>C (p.Gly461Arg) rs1135401954
NM_000489.5(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs) rs1602635656
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_006950.3(SYN1):c.314del (p.Gly105fs) rs1603078587

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