List of variants in gene USH2A reported as likely 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: 47

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	rs111033269	0.00379
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)	rs113107803	0.00105
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)	rs149553844	0.00089
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)	rs143696882	0.00066
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)	rs138398671	0.00026
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	rs111033524	0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	rs368049814	0.00008
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)	rs201238640	0.00004
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00004
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	rs397517984	0.00003
NM_206933.4(USH2A):c.7595-3C>G	rs201657446	0.00003
NM_206933.4(USH2A):c.9571-2A>G	rs751111524	0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)	rs749228276	0.00003
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)	rs780308389	0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	rs753330544	0.00001
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu)	rs762388072	0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)	rs770553471	0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)	rs137954284	0.00001
NM_206933.4(USH2A):c.6050-1G>A	rs1035024403	0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	rs397518026	0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)	rs41315579	0.00001
NM_206933.4(USH2A):c.10183-1375_10387+1389del
NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu)	rs1553257685
NM_206933.4(USH2A):c.11694del (p.Asn3899fs)	rs1553257502
NM_206933.4(USH2A):c.12309del (p.Phe4103fs)	rs1553252528
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)	rs1362058696
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)	rs775490668
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	rs1553252388
NM_206933.4(USH2A):c.3158-6A>G	rs397518010
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del)	rs1215540106
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)	rs754634823
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	rs727505116
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)	rs1553298240
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)	rs869312182
NM_206933.4(USH2A):c.7358T>A (p.Val2453Asp)	rs1553274531
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)	rs397518036
NM_206933.4(USH2A):c.8223+1G>C	rs1553273280
NM_206933.4(USH2A):c.9259-503_9371+1650del
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)	rs1359713084
NM_206933.4(USH2A):c.9785G>T (p.Gly3262Val)	rs1553263639
Single allele

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