ClinVar Miner

List of variants in gene USH2A reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 27
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HGVS dbSNP
NC_000001.11:g.215741537del
NM_206933.3(USH2A):c.11549-1G>A rs878853407
NM_206933.3(USH2A):c.11714G>A (p.Arg3905His) rs201709470
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.6722C>A (p.Pro2241His) rs1057518826
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.3(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240
NM_206933.3(USH2A):c.99_100insT (p.Arg34fs) rs141672841
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn)
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
NM_206933.4(USH2A):c.6805+195T>G
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272

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