List of variants in gene USH2A reported by Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)	rs781668118	0.00003
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)	rs111033395	0.00001
NM_206933.4(USH2A):c.11516del (p.Gln3839fs)	rs1558078416	0.00001
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)	rs1364987785	0.00001
NM_206933.4(USH2A):c.12313_12319del (p.Asp4105fs)
NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter)	rs367850936
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)	rs1657939866
NM_206933.4(USH2A):c.1645-2A>G
NM_206933.4(USH2A):c.1850G>A (p.Cys617Tyr)
NM_206933.4(USH2A):c.1860C>A (p.Cys620Ter)
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe)	rs2102496508
NM_206933.4(USH2A):c.6638_6641del (p.Lys2213fs)
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)	rs376983577
NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)	rs1665132445
NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)
NM_206933.4(USH2A):c.9602_9611del (p.Lys3201fs)	rs2102793202
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)

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