ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome type 2A by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (4):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)	rs570277510	0.00026
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)	rs397518027	0.00002

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