List of variants in gene USH2A reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
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.10342G>A (p.Glu3448Lys)	rs368049814	0.00008
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	rs369522997	0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00006
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00004
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00004
NM_206933.4(USH2A):c.8559-2A>G	rs397518039	0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)	rs766590491	0.00003
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)	rs1057519193	0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)	rs1003869920	0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)	rs534534437	0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	rs397518026	0.00001
NM_206933.4(USH2A):c.9056-2A>G	rs754970095	0.00001
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)	rs772808534
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)	rs111033418
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)	rs41314534
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)	rs768062696
NM_206933.4(USH2A):c.1144-2A>T	rs2037686445
NM_206933.4(USH2A):c.1150del (p.Tyr384fs)
NM_206933.4(USH2A):c.11549-1G>A	rs878853407
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs)	rs1659891151
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)	rs988693758
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)	rs398124618
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter)	rs757525434
NM_206933.4(USH2A):c.12759G>A (p.Trp4253Ter)	rs1657973895
NM_206933.4(USH2A):c.12809_12810del (p.Val4270fs)
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)	rs527236137
NM_206933.4(USH2A):c.13128G>A (p.Trp4376Ter)	rs1349682845
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)	rs727503715
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)	rs397518014
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)	rs756623509
NM_206933.4(USH2A):c.5020A>T (p.Lys1674Ter)
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)	rs751176116
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)	rs1553272201
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)	rs1553268582
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	rs397518048

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