ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2A by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_206933.4(USH2A):c.12067-1G>A rs397517977 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) rs1386612395
NM_206933.4(USH2A):c.3158-2A>G rs878853404
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.4(USH2A):c.6657+1G>A rs1571876788

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