ClinVar Miner

List of variants studied for mandibulofacial dysostosis by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001104631.2(PDE4D):c.946C>T (p.Leu316Phe) rs2153344901
NM_001371623.1(TCOF1):c.1634C>G (p.Ser545Ter)
NM_019014.6(POLR1B):c.56T>C (p.Leu19Ser)

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