ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 1

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.1126C>T (p.Arg376Ter) rs760689800 0.00002
NM_006269.2(RP1):c.1498_1499del (p.Met500fs) rs765129639 0.00002
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter) rs765035454 0.00001
NM_006269.2(RP1):c.5248G>T (p.Glu1750Ter) rs1444271998 0.00001
NM_006269.1:c.-12-1431_*286del
NM_006269.2(RP1):c.1234dup (p.Met412fs) rs760283610
NM_006269.2(RP1):c.1994del (p.Leu665fs) rs2129316359
NM_006269.2(RP1):c.2015dup (p.Lys673fs) rs2129316376
NM_006269.2(RP1):c.2092_2093delinsTCTT (p.Lys698fs) rs2129316420
NM_006269.2(RP1):c.2108del (p.Asn703fs) rs1806033536
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.2166del (p.Gly723fs) rs2129316459
NM_006269.2(RP1):c.2515C>T (p.Gln839Ter) rs2129316679
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.4171del (p.Gln1391fs) rs2129317503
NM_006269.2(RP1):c.4196del (p.Cys1399fs) rs762951570
NM_006269.2(RP1):c.4636C>T (p.Gln1546Ter) rs1806147660
NM_006269.2(RP1):c.4709del (p.Gly1570fs) rs2129317773
NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter) rs200942439
NM_006269.2(RP1):c.4941dup (p.Pro1648fs)
NM_006269.2(RP1):c.5564del (p.Lys1855fs) rs2129318266
NM_006269.2(RP1):c.5921del (p.Ala1974fs) rs1806199541
NM_006269.2(RP1):c.606C>A (p.Asp202Glu) rs1805879513
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter) rs1585569717
NM_006269.2(RP1):c.668del (p.Gly223fs) rs1231321479

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