ClinVar Miner

List of variants reported as likely benign for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (181):

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_004525.3(LRP2):c.92C>T (p.Ala31Val)	rs144829356	0.00280
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His)	rs142934522	0.00195

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