List of variants in gene USH2A reported as pathogenic by Eurofins NTD LLC (GA)

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00008
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	rs369522997	0.00006
NM_206933.4(USH2A):c.12295-3T>A	rs111033518	0.00006
NM_206933.4(USH2A):c.908G>A (p.Arg303His)	rs371777049	0.00004
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)	rs398124619	0.00003
NM_206933.4(USH2A):c.8559-2A>G	rs397518039	0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_206933.4(USH2A):c.9371+1G>C	rs41308425	0.00002
NM_206933.4(USH2A):c.11047+1G>A	rs201730567	0.00001
NM_206933.4(USH2A):c.12067-2A>G	rs397517978	0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	rs768161313	0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	rs111033385	0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	rs753330544	0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)	rs534534437	0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	rs111033334	0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)	rs1461319754	0.00001
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	rs727503731
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)	rs774573692
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)	rs397517964
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)	rs779791079
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)	rs398124618
NM_206933.4(USH2A):c.13695T>G (p.Tyr4565Ter)	rs1553252343
NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter)	rs886042722
NM_206933.4(USH2A):c.14502_14503del (p.Pro4835fs)	rs794727830
NM_206933.4(USH2A):c.1679del (p.Pro560fs)	rs773539640
NM_206933.4(USH2A):c.3086del (p.Gly1029fs)	rs886044060
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)	rs886039450
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)	rs748369458
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs)	rs1558251742
NM_206933.4(USH2A):c.5167+1G>T	rs794727408
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)	rs727505343
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)	rs769838859
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)	rs794727579
NM_206933.4(USH2A):c.920_923dup (p.His308fs)	rs397518043
NM_206933.4(USH2A):c.9390G>A (p.Trp3130Ter)	rs886042766

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