ClinVar Miner

List of variants reported as not provided for Retinitis pigmentosa

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000322.5(PRPH2):c.394del (p.Gln132fs) rs769723975
NM_000539.3(RHO):c.217_219del (p.Asn73del) rs398122525
NM_001379270.1(CNGA1):c.1570G>C (p.Ala524Pro) rs373946784
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904

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