ClinVar Miner

List of variants in gene EPB41 reported as uncertain significance by Neuberg Centre For Genomic Medicine, NCGM

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001376013.1(EPB41):c.2269A>G (p.Ile757Val)	rs547322551	0.00004
NM_001376013.1(EPB41):c.415C>T (p.Leu139Phe)	rs772686614	0.00001

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