ClinVar Miner

List of variants reported as likely pathogenic for mandibulofacial dysostosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (17):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)	rs191582628	0.00010
NM_001104631.2(PDE4D):c.2051A>G (p.Glu684Gly)	rs1743358464

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