ClinVar Miner

List of variants in gene USH2A reported as likely benign by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 19
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NM_007123.5(USH2A):c.1539C>T (p.Thr513=) rs199939890
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001
NM_206933.4(USH2A):c.1116A>T (p.Ser372=) rs754923350
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.4(USH2A):c.6366A>T (p.Ala2122=)
NM_206933.4(USH2A):c.6597T>A (p.Leu2199=)
NM_206933.4(USH2A):c.6639A>G (p.Lys2213=)
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.4(USH2A):c.7197C>T (p.Ile2399=) rs1305453013
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328

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