ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter)

gnomAD frequency: 0.00003  dbSNP: rs1377622831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemistry Laboratory of CDMU, Chengde Medical University RCV000768447 SCV000899208 pathogenic Acrofacial dysostosis Cincinnati type no assertion criteria provided case-control

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