ClinVar Miner

List of variants studied for Usher syndrome type 2A by Laboratory of Prof. Karen Avraham, Tel Aviv University

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys) rs148049006 0.00011
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro) rs201332729 0.00003
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.11520T>G (p.Tyr3840Ter)
NM_206933.4(USH2A):c.13564C>T (p.Leu4522Phe)
NM_206933.4(USH2A):c.14993C>A (p.Thr4998Lys)

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