ClinVar Miner

List of variants in gene RP1 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_006269.2(RP1):c.2615G>A (p.Arg872His) rs444772 0.24558
NM_006269.1(RP1):c.-154T>C rs74632105 0.04591
NM_006269.2(RP1):c.4784G>A (p.Arg1595Gln) rs35084330 0.03211
NM_006269.2(RP1):c.3699C>T (p.Ser1233=) rs114557304 0.03129
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_006269.2(RP1):c.*72G>A rs73679499 0.00870
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487 0.00829
NM_006269.2(RP1):c.2833G>T (p.Val945Leu) rs16920621 0.00690
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro) rs139294220 0.00204
NM_006269.2(RP1):c.279G>T (p.Thr93=) rs144293929 0.00184
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00153
NM_006269.2(RP1):c.2385C>T (p.Ile795=) rs184739468 0.00105
NM_006269.2(RP1):c.-106G>A rs142681427 0.00094
NM_006269.2(RP1):c.-51A>G rs572206979 0.00090
NM_006269.2(RP1):c.487G>A (p.Asp163Asn) rs370436803 0.00074
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006269.2(RP1):c.4563C>T (p.Asn1521=) rs150524359 0.00056
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) rs149282954 0.00040
NM_006269.2(RP1):c.615+3G>A rs199632605 0.00037
NM_006269.2(RP1):c.*71C>T rs185876566 0.00028
NM_006269.2(RP1):c.912G>T (p.Lys304Asn) rs189145468 0.00025
NM_006269.2(RP1):c.2386G>A (p.Gly796Ser) rs202031905 0.00017
NM_006269.2(RP1):c.3101A>T (p.His1034Leu) rs148296108 0.00016
NM_006269.2(RP1):c.*269A>G rs1276671291 0.00015
NM_006269.2(RP1):c.2938G>A (p.Gly980Ser) rs202226256 0.00014
NM_006269.2(RP1):c.2005G>A (p.Ala669Thr) rs201725231 0.00013
NM_006269.2(RP1):c.4299A>G (p.Ala1433=) rs148918111 0.00013
NM_006269.2(RP1):c.2016G>T (p.Lys672Asn) rs200252967 0.00010
NM_006269.2(RP1):c.2894G>T (p.Ser965Ile) rs201110322 0.00009
NM_006269.2(RP1):c.3036G>C (p.Leu1012=) rs373971446 0.00009
NM_006269.2(RP1):c.3040G>C (p.Asp1014His) rs200186332 0.00009
NM_006269.2(RP1):c.6169C>G (p.Gln2057Glu) rs201860457 0.00009
NM_006269.2(RP1):c.21T>G (p.Thr7=) rs377126381 0.00008
NM_006269.2(RP1):c.3999C>T (p.Tyr1333=) rs146602041 0.00008
NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr) rs147384119 0.00007
NM_006269.2(RP1):c.4131C>T (p.Asp1377=) rs538825686 0.00007
NM_006269.2(RP1):c.1595A>G (p.Glu532Gly) rs371028735 0.00006
NM_006269.2(RP1):c.3399C>G (p.Leu1133=) rs746723674 0.00006
NM_006269.2(RP1):c.4856A>G (p.Gln1619Arg) rs113911625 0.00006
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn) rs143494598 0.00005
NM_006269.2(RP1):c.1841A>G (p.His614Arg) rs762549305 0.00005
NM_006269.2(RP1):c.1980T>A (p.Asn660Lys) rs886062990 0.00005
NM_006269.2(RP1):c.4735T>G (p.Leu1579Val) rs200860068 0.00005
NM_006269.2(RP1):c.*78G>T rs551504653 0.00004
NM_006269.2(RP1):c.-37T>C rs769599875 0.00004
NM_006269.2(RP1):c.141A>G (p.Gln47=) rs372249141 0.00004
NM_006269.2(RP1):c.1472G>A (p.Ser491Asn) rs758334212 0.00004
NM_006269.2(RP1):c.3198G>A (p.Glu1066=) rs759707480 0.00004
NM_006269.2(RP1):c.3579C>T (p.His1193=) rs777012140 0.00004
NM_006269.2(RP1):c.4699A>G (p.Met1567Val) rs374421129 0.00004
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser) rs756000109 0.00003
NM_006269.2(RP1):c.1439T>C (p.Ile480Thr) rs753472746 0.00002
NM_006269.2(RP1):c.2825C>T (p.Thr942Met) rs112323560 0.00002
NM_006269.2(RP1):c.919T>C (p.Ser307Pro) rs377130833 0.00002
NM_006269.2(RP1):c.*75C>T rs1439625423 0.00001
NM_006269.2(RP1):c.-101G>A rs867287513 0.00001
NM_006269.2(RP1):c.314T>C (p.Leu105Pro) rs760751066 0.00001
NM_006269.2(RP1):c.3456G>A (p.Lys1152=) rs886062992 0.00001
NM_006269.2(RP1):c.3968A>G (p.Tyr1323Cys) rs754606635 0.00001
NM_006269.2(RP1):c.4393T>C (p.Leu1465=) rs769786870 0.00001
NM_006269.2(RP1):c.4536G>C (p.Lys1512Asn) rs752606944 0.00001
NM_006269.2(RP1):c.4742A>T (p.Lys1581Ile) rs766323335 0.00001
NM_006269.2(RP1):c.74G>A (p.Arg25His) rs886062989 0.00001
NM_006269.2(RP1):c.*179_*181del rs140712625
NM_006269.2(RP1):c.*260_*261dup rs10654889
NM_006269.2(RP1):c.*261dup rs10654889
NM_006269.2(RP1):c.-12-12T>C rs886062988
NM_006269.2(RP1):c.104C>T (p.Ala35Val) rs1805847793
NM_006269.2(RP1):c.1280A>C (p.Asn427Thr) rs1331133343
NM_006269.2(RP1):c.2017A>G (p.Lys673Glu) rs766341403
NM_006269.2(RP1):c.2239A>G (p.Ser747Gly) rs1806038181
NM_006269.2(RP1):c.2247C>G (p.Leu749=) rs1330376739
NM_006269.2(RP1):c.2524G>A (p.Val842Met) rs886062991
NM_006269.2(RP1):c.2545G>A (p.Gly849Arg) rs1806051809
NM_006269.2(RP1):c.3034C>T (p.Leu1012=) rs1371672240
NM_006269.2(RP1):c.3295C>G (p.His1099Asp) rs1806083205
NM_006269.2(RP1):c.3357T>G (p.Ser1119=) rs1806085195
NM_006269.2(RP1):c.3796A>C (p.Lys1266Gln) rs1806109030
NM_006269.2(RP1):c.3870G>T (p.Gln1290His) rs886062993
NM_006269.2(RP1):c.4379G>T (p.Arg1460Ile) rs758211043
NM_006269.2(RP1):c.4606C>T (p.Pro1536Ser) rs767248972
NM_006269.2(RP1):c.4685T>A (p.Met1562Lys) rs774074476
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006269.2(RP1):c.6119C>A (p.Ser2040Ter) rs1563333726
NM_006269.2(RP1):c.6255A>T (p.Gln2085His) rs886062995
NM_006269.2(RP1):c.6423dup (p.Leu2142fs) rs1563333973
NM_006269.2(RP1):c.649G>A (p.Gly217Arg) rs1339553429
NM_006269.2(RP1):c.883G>A (p.Val295Ile) rs1321792993

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