ClinVar Miner

List of variants in gene GCNT2 reported as likely pathogenic by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys)	rs148284531	0.00009
NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys)	rs786205577	0.00001

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