ClinVar Miner

List of variants in gene EVC2 reported as pathogenic by Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine

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: 1

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)	rs763363403

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