List of variants in gene USH2A reported as pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.9372-1G>A	rs1558111861	0.00001
NM_206933.4(USH2A):c.10388-1G>C	rs1553261478
NM_206933.4(USH2A):c.11174del (p.Phe3725fs)	rs1571657875
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)	rs1553320542
NM_206933.4(USH2A):c.3435del (p.Val1147fs)	rs397518012
NM_206933.4(USH2A):c.409dup (p.Ser137fs)	rs1571805164
NM_206933.4(USH2A):c.667dup (p.Ile223fs)	rs1553253747

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