ClinVar Miner

List of variants studied for Retinitis pigmentosa by Mendelics

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln) rs192912733 0.00034
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val) rs62640587 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter) rs779334655 0.00004
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr) rs377043137 0.00003
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) rs121918576 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164 0.00001
NM_006269.2(RP1):c.1265dup (p.Ala423fs) rs770659908 0.00001
NM_000283.4(PDE6B):c.2021+2T>G rs1577301589
NM_000283.4(PDE6B):c.2395C>T (p.Arg799Ter) rs970990957
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter) rs1577311264
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter) rs1581180469
NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter) rs375659222
NM_000440.3(PDE6A):c.2064del (p.Lys689fs) rs1581164958
NM_001012720.2(RGR):c.820del (p.Arg274fs) rs1589337745
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp) rs1601982532
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter) rs1601924184
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter) rs1601923813
NM_001034853.2(RPGR):c.248-2A>G rs62638633
NM_001034853.2(RPGR):c.2522del (p.Glu841fs) rs1601922202
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg) rs1601978925
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del) rs1356107537
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT rs1601978817
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter) rs1601978823
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs) rs1601974881
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr) rs1601961064
NM_001034853.2(RPGR):c.957del (p.Phe319fs) rs1601947074
NM_001297.5(CNGB1):c.1122-2A>T rs1596997875
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001379270.1(CNGA1):c.546-1G>C rs1037963003
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs) rs527236116
NM_005802.5(TOPORS):c.2895dup (p.Cys966fs) rs1246790145
NM_006269.2(RP1):c.1234dup (p.Met412fs) rs760283610
NM_006269.2(RP1):c.2778T>A (p.Tyr926Ter) rs1585564369
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu) rs933842186
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu) rs1477839027
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter) rs1439576531
NM_015629.4(PRPF31):c.322+1G>A rs1600335289
NM_015629.4(PRPF31):c.335del (p.Lys112fs) rs1600337158
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile) rs1600324262
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) rs764232082
NM_015629.4(PRPF31):c.856-1G>A rs1600350656
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs) rs1600324442
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) rs1555794205

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