ClinVar Miner

List of variants reported as pathogenic for acrofacial dysostosis Cincinnati type by Biochemistry Laboratory of CDMU,Chengde Medical University

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) rs1377622831

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