List of variants in gene USH2A reported as likely pathogenic by GeneDx

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00014
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	rs143344549	0.00011
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	rs368049814	0.00008
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)	rs483353056	0.00006
NM_206933.4(USH2A):c.8682-9A>G	rs372347027	0.00004
NM_206933.4(USH2A):c.15297+1G>C	rs767630412	0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)	rs1342455785	0.00003
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)	rs750321557	0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)	rs759898765	0.00002
NM_206933.4(USH2A):c.14792-2A>G	rs137853923	0.00002
NM_206933.4(USH2A):c.5857+2T>C	rs397518022	0.00002
NM_206933.4(USH2A):c.11389+3A>T	rs753886165	0.00001
NM_206933.4(USH2A):c.11473del (p.His3825fs)	rs774677256	0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)	rs770553471	0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)	rs1393503590	0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)	rs1064793287	0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)	rs751479180	0.00001
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)	rs1241034250
NM_206933.4(USH2A):c.10571C>A (p.Pro3524His)	rs1064793288
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	rs1553252388
NM_206933.4(USH2A):c.14583-1G>T
NM_206933.4(USH2A):c.14791+4A>G	rs1408904076
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)	rs1656646221
NM_206933.4(USH2A):c.15267_15275delinsC (p.Leu5089fs)	rs1553248812
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)	rs751035557
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)	rs368798834
NM_206933.4(USH2A):c.3507G>C (p.Trp1169Cys)
NM_206933.4(USH2A):c.3959C>A (p.Pro1320His)	rs771924569
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	rs727505116
NM_206933.4(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs)	rs869312180
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)	rs397518021
NM_206933.4(USH2A):c.7595-2A>G	rs1064795047
NM_206933.4(USH2A):c.7595-3_7596delinsGAGAG
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)	rs2037760521
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)	rs780036975

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