ClinVar Miner

List of variants reported as benign for mandibulofacial dysostosis by Mendelics

Included ClinVar conditions (18):

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)	rs139717960	0.00069
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del)	rs773205979

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