List of variants in gene USH2A reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)	rs56136489	0.00172
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)	rs113107803	0.00105
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)	rs111033508	0.00102
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)	rs148153079	0.00099
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)	rs41302239	0.00081
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)	rs148033154	0.00067
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)	rs138607917	0.00061
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)	rs142381713	0.00049
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)	rs144783615	0.00047
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)	rs147532612	0.00018
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)	rs528342000	0.00016
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)	rs143319658	0.00014
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	rs111033524	0.00008
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)	rs541918040	0.00007
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)	rs754774098	0.00006
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)	rs760977747	0.00004
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile)	rs373152283	0.00002
NM_206933.4(USH2A):c.15520-1G>A	rs767265734	0.00002
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val)	rs750899958	0.00002
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile)	rs751834009	0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)	rs1064793287	0.00001
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala)	rs754703964	0.00001
NM_206933.4(USH2A):c.8380G>A (p.Val2794Ile)	rs373984123	0.00001
NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp)	rs1571678968
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)	rs1436435041
NM_206933.4(USH2A):c.12122T>C (p.Ile4041Thr)	rs1558051246
NM_206933.4(USH2A):c.15581G>T (p.Arg5194Leu)	rs727505155
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)	rs1469348824
NM_206933.4(USH2A):c.5698T>C (p.Cys1900Arg)	rs201026468
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)	rs374146074
NM_206933.4(USH2A):c.9187A>G (p.Lys3063Glu)	rs1663780024

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