ClinVar Miner

List of variants in gene combination BEST1, FTH1 reported as uncertain significance for MRCS syndrome

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_002032.3(FTH1):c.*312A>G	rs756884770	0.00098
NM_002032.3(FTH1):c.*336A>G	rs1158112939	0.00001

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