ClinVar Miner

List of variants reported as likely pathogenic for dysostosis by Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital)

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter) rs2130712164
NM_021224.6(ZNF462):c.6431C>A (p.Ser2144Ter) rs2132039347

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