List of variants in gene USH2A reported as pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)	rs1003869920	0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	rs397518041	0.00001
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	rs727503731
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)	rs772808534
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)	rs779791079
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)	rs762159022
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)	rs727503715
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)	rs746551311
NM_206933.4(USH2A):c.920_923dup (p.His308fs)	rs397518043

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