List of variants in gene USH2A reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	rs368049814	0.00008
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)	rs1172628170	0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)	rs1461319754	0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)	rs1064797134	0.00001
GRCh37/hg19 1q41(chr1:216173745-216500996)x1
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
GRCh37/hg19 1q41(chr1:216462622-216465712)x1
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs)	rs1064797133
NM_206933.4(USH2A):c.15353del (p.Asn5118fs)	rs1553248224
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter)	rs368798834
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)	rs1064797138
NM_206933.4(USH2A):c.5167+1G>C	rs794727408
NM_206933.4(USH2A):c.5447T>A (p.Val1816Glu)	rs777011507
NM_206933.4(USH2A):c.5777-2A>C	rs1064797136
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs)	rs1553272035
NM_206933.4(USH2A):c.9048C>A (p.Cys3016Ter)	rs1057519208
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)	rs1571703801

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