List of variants in gene USH2A reported as pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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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.4106C>T (p.Ser1369Leu)	rs201709513	0.00019
NM_206933.4(USH2A):c.486-14G>A	rs374536346	0.00004
NM_206933.4(USH2A):c.8682-9A>G	rs372347027	0.00004
NM_206933.4(USH2A):c.11048-2A>G	rs200871041	0.00002
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)	rs748983904	0.00001
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)	rs868562952
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)	rs769838859
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter)	rs2102458475
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)	rs1553250952
NM_206933.4(USH2A):c.920_923dup (p.His308fs)	rs397518043
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)	rs1571703801

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