ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 2

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006915.3(RP2):c.103-2A>G rs2147081133
NM_006915.3(RP2):c.277del (p.Leu93fs)
NM_006915.3(RP2):c.409_411del (p.Ile137del) rs1924904597
NM_006915.3(RP2):c.416_417del (p.Ser139fs)
NM_006915.3(RP2):c.434T>C (p.Phe145Ser) rs1000426939
NM_006915.3(RP2):c.524A>C (p.His175Pro) rs2147081422
NM_006915.3(RP2):c.599del (p.Pro200fs)
NM_006915.3(RP2):c.623_624dup (p.Ala209fs)
NM_006915.3(RP2):c.758del (p.Leu253fs) rs1602347992
NM_006915.3(RP2):c.768G>C (p.Glu256Asp) rs1227276668
NM_006915.3(RP2):c.884-9T>A rs1428719874
NM_006915.3(RP2):c.969+2T>C rs1925392056
NM_006915.3(RP2):c.969+3A>C rs2147089334
NM_006915.3(RP2):c.970-51_*1del

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