ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 1

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Total variants: 14
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HGVS dbSNP
NM_006269.1:c.-12-1431_*286del
NM_006269.2(RP1):c.1126C>T (p.Arg376Ter)
NM_006269.2(RP1):c.1234dup (p.Met412fs) rs760283610
NM_006269.2(RP1):c.1498_1499del (p.Met500fs) rs765129639
NM_006269.2(RP1):c.2108del (p.Asn703fs)
NM_006269.2(RP1):c.2515C>T (p.Gln839Ter)
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.4171del (p.Gln1391fs)
NM_006269.2(RP1):c.4196del (p.Cys1399fs) rs762951570
NM_006269.2(RP1):c.4709del (p.Gly1570fs)
NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter)
NM_006269.2(RP1):c.5921del (p.Ala1974fs)
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter) rs1585569717
NM_006269.2(RP1):c.668del (p.Gly223fs)

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