ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 39

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Total variants: 15
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HGVS dbSNP
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.3(USH2A):c.1965T>G (p.Cys655Trp) rs1558366840
NM_206933.3(USH2A):c.2195G>T (p.Gly732Val)
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) rs397518013
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.8558+5G>A rs746331566
NM_206933.3(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978
NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) rs536593247
NM_206933.3(USH2A):c.9919T>A (p.Cys3307Ser) rs1553263572

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