ClinVar Miner

List of variants studied for mandibulofacial dysostosis-microcephaly syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004247.4(EFTUD2):c.1292_1293del (p.Val431fs) rs2508767267
NM_004247.4(EFTUD2):c.2466+2T>C rs2508723563
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390

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