ClinVar Miner

List of variants reported as benign for acrofacial dysostosis by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (11):

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

Total variants: 3

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HGVS	dbSNP
NM_004247.4(EFTUD2):c.426+8G>A	rs2289677
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=)	rs2289674
NM_004247.4(EFTUD2):c.994+6C>T	rs11654183

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