List of variants in gene USH2A reported as uncertain significance for Usher syndrome

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)	rs34596189	0.00216
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)	rs140487302	0.00033
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)	rs138398671	0.00026
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)	rs150982499	0.00023
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)	rs150230450	0.00023
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)	rs745693690	0.00009
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00008
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)	rs534656527	0.00005
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00004
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	rs397517984	0.00003
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	rs1057519382	0.00002
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)	rs777043718	0.00001
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)	rs549796389	0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)	rs267598373	0.00001
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)	rs757682417
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs)	rs1553252328
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)	rs727504551
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe)
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)	rs1553316429
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	rs727505116
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)	rs550772689
NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly)
NM_206933.4(USH2A):c.895del (p.Gln299fs)	rs1338169194
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	rs1388040238

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