ClinVar Miner

List of variants studied for mandibulofacial dysostosis by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (18):
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.2179C>T (p.Arg727Trp) rs759832724 0.00001
NM_001371623.1(TCOF1):c.3683C>T (p.Ser1228Phe) rs1554079581
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502

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