ClinVar Miner

List of variants reported as pathogenic for MRCS syndrome by OMIM

Included ClinVar conditions (2):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.256G>A (p.Val86Met)	rs121918289
NM_004183.4(BEST1):c.704T>C (p.Val235Ala)	rs267606679
NM_004183.4(BEST1):c.707A>G (p.Tyr236Cys)	rs121918291

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