ClinVar Miner

List of variants in gene USH2A reported as uncertain significance by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

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Total variants: 16
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HGVS dbSNP
NM_007123.5(USH2A):c.672C>A (p.Ser224Arg) rs1571744237
NM_206933.3(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678
NM_206933.3(USH2A):c.10808C>T (p.Ala3603Val) rs753430531
NM_206933.3(USH2A):c.11714G>A (p.Arg3905His) rs201709470
NM_206933.3(USH2A):c.13123T>G (p.Cys4375Gly) rs1558048384
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.4146G>C (p.Trp1382Cys) rs753908845
NM_206933.3(USH2A):c.5074G>T (p.Asp1692Tyr) rs1571948108
NM_206933.3(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
NM_206933.3(USH2A):c.9346C>A (p.Pro3116Thr) rs140260219
NM_206933.3(USH2A):c.9503G>T (p.Cys3168Phe) rs746007103
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287

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