ClinVar Miner

List of variants in gene RP1 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 199
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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_006269.2(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.3132A>C (p.Lys1044Asn) rs35234349 0.00236
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.4783C>T (p.Arg1595Trp) rs555883522 0.00011
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.1726G>A (p.Val576Met) rs201008674 0.00007
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.4642A>T (p.Ser1548Cys) rs941588545 0.00006
NM_006269.2(RP1):c.4665A>G (p.Gly1555=) rs929619376 0.00006
NM_006269.2(RP1):c.4856A>G (p.Gln1619Arg) rs113911625 0.00006
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
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.1625C>G (p.Ser542Ter) rs779334655 0.00004
NM_006269.2(RP1):c.3198G>A (p.Glu1066=) rs759707480 0.00004
NM_006269.2(RP1):c.3317T>C (p.Val1106Ala) rs1043235694 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.2716G>A (p.Ala906Thr) rs201538234 0.00003
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.1126C>T (p.Arg376Ter) rs760689800 0.00002
NM_006269.2(RP1):c.1439T>C (p.Ile480Thr) rs753472746 0.00002
NM_006269.2(RP1):c.1498_1499del (p.Met500fs) rs765129639 0.00002
NM_006269.2(RP1):c.1516A>G (p.Ser506Gly) rs546625124 0.00002
NM_006269.2(RP1):c.1986del (p.Lys663fs) rs754246929 0.00002
NM_006269.2(RP1):c.2825C>T (p.Thr942Met) rs112323560 0.00002
NM_006269.2(RP1):c.3504G>A (p.Lys1168=) rs191997072 0.00002
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn) rs753732597 0.00002
NM_006269.2(RP1):c.919T>C (p.Ser307Pro) rs377130833 0.00002
NM_001375654.1(RP1):c.2212-1G>A rs997666144 0.00001
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.1265dup (p.Ala423fs) rs770659908 0.00001
NM_006269.2(RP1):c.1458_1461dup (p.Glu488Ter) rs869320728 0.00001
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter) rs765035454 0.00001
NM_006269.2(RP1):c.1661G>A (p.Ser554Asn) rs1252073669 0.00001
NM_006269.2(RP1):c.2511A>G (p.Gln837=) rs753558619 0.00001
NM_006269.2(RP1):c.314T>C (p.Leu105Pro) rs760751066 0.00001
NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg) rs1245809381 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.4804C>T (p.Gln1602Ter) rs1359338583 0.00001
NM_006269.2(RP1):c.615+19C>T rs374595990 0.00001
NM_006269.2(RP1):c.615+1G>A rs886210482 0.00001
NM_006269.2(RP1):c.74G>A (p.Arg25His) rs886062989 0.00001
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_006269.1:c.-12-1431_*286del
NM_006269.2(RP1):c.-12-12T>C rs886062988
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter) rs1805984836
NM_006269.2(RP1):c.104C>T (p.Ala35Val) rs1805847793
NM_006269.2(RP1):c.1183G>T (p.Glu395Ter) rs377463031
NM_006269.2(RP1):c.1234dup (p.Met412fs) rs760283610
NM_006269.2(RP1):c.1280A>C (p.Asn427Thr) rs1331133343
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter) rs1563329888
NM_006269.2(RP1):c.1510T>C (p.Ser504Pro) rs530033470
NM_006269.2(RP1):c.160del (p.Val54fs)
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.188T>C (p.Phe63Ser) rs369919266
NM_006269.2(RP1):c.1951C>T (p.Gln651Ter)
NM_006269.2(RP1):c.1994del (p.Leu665fs) rs2129316359
NM_006269.2(RP1):c.2001del (p.Val668fs)
NM_006269.2(RP1):c.2015del (p.Lys672fs)
NM_006269.2(RP1):c.2015dup (p.Lys673fs) rs2129316376
NM_006269.2(RP1):c.2017A>G (p.Lys673Glu) rs766341403
NM_006269.2(RP1):c.2026del (p.Ser676fs) rs1585563087
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter) rs104894083
NM_006269.2(RP1):c.2041dup (p.Ile681fs) rs1174193938
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) rs1250214380
NM_006269.2(RP1):c.2056C>T (p.Gln686Ter) rs1554519533
NM_006269.2(RP1):c.2079del (p.Gly694fs) rs2129316415
NM_006269.2(RP1):c.2083del (p.Ile695fs) rs1554519538
NM_006269.2(RP1):c.2092_2093delinsTCTT (p.Lys698fs) rs2129316420
NM_006269.2(RP1):c.2102_2103del (p.Arg701fs)
NM_006269.2(RP1):c.2103_2104del (p.Arg701fs)
NM_006269.2(RP1):c.2108del (p.Asn703fs) rs1806033536
NM_006269.2(RP1):c.2113A>T (p.Lys705Ter) rs1806033844
NM_006269.2(RP1):c.2115del (p.Gly706fs) rs1585563204
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.2166del (p.Gly723fs) rs2129316459
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) rs1585563283
NM_006269.2(RP1):c.2172_2185del (p.Ile725fs) rs1554519546
NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter) rs1585563328
NM_006269.2(RP1):c.2206dup (p.Thr736fs) rs1554519554
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
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.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2287_2290del (p.Asn763fs) rs869320727
NM_006269.2(RP1):c.2321del (p.Leu773_Leu774insTer) rs1554519577
NM_006269.2(RP1):c.2335del (p.Ser779fs) rs1563330595
NM_006269.2(RP1):c.2515C>T (p.Gln839Ter) rs2129316679
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.257dup (p.Arg87fs) rs1314420869
NM_006269.2(RP1):c.2585C>G (p.Ser862Ter) rs1585563965
NM_006269.2(RP1):c.2596_2597del (p.Leu866fs) rs1554519635
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter) rs1554519651
NM_006269.2(RP1):c.2690_2695del (p.Ser897_Lys899delinsTer) rs1585564175
NM_006269.2(RP1):c.269del (p.His90fs) rs1585557752
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.2773C>A (p.Pro925Thr) rs1806061663
NM_006269.2(RP1):c.2778T>A (p.Tyr926Ter) rs1585564369
NM_006269.2(RP1):c.3034C>T (p.Leu1012=) rs1371672240
NM_006269.2(RP1):c.3157del (p.Tyr1053fs) rs748709396
NM_006269.2(RP1):c.3295C>G (p.His1099Asp) rs1806083205
NM_006269.2(RP1):c.32T>A (p.Ile11Asn)
NM_006269.2(RP1):c.3357T>G (p.Ser1119=) rs1806085195
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter) rs561075447
NM_006269.2(RP1):c.3428del (p.Asn1143fs) rs1806088809
NM_006269.2(RP1):c.3688C>T (p.Gln1230Ter) rs879399888
NM_006269.2(RP1):c.3688_3689insCCT (p.Gln1230delinsProTer)
NM_006269.2(RP1):c.368_369dup (p.Pro124fs) rs1246397238
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006269.2(RP1):c.3796A>C (p.Lys1266Gln) rs1806109030
NM_006269.2(RP1):c.3843del (p.Pro1282fs) rs769601671
NM_006269.2(RP1):c.3870G>T (p.Gln1290His) rs886062993
NM_006269.2(RP1):c.4171del (p.Gln1391fs) rs2129317503
NM_006269.2(RP1):c.4196del (p.Cys1399fs) rs762951570
NM_006269.2(RP1):c.4218_4221del (p.Glu1407fs) rs1806128576
NM_006269.2(RP1):c.4379G>T (p.Arg1460Ile) rs758211043
NM_006269.2(RP1):c.4421del (p.His1474fs)
NM_006269.2(RP1):c.4535A>G (p.Lys1512Arg)
NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter) rs1585567204
NM_006269.2(RP1):c.4606C>T (p.Pro1536Ser) rs767248972
NM_006269.2(RP1):c.461G>A (p.Arg154Gln)
NM_006269.2(RP1):c.4636C>T (p.Gln1546Ter) rs1806147660
NM_006269.2(RP1):c.4685T>A (p.Met1562Lys) rs774074476
NM_006269.2(RP1):c.4709del (p.Gly1570fs) rs2129317773
NM_006269.2(RP1):c.4743dup (p.Cys1582fs) rs886041040
NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg) rs527236106
NM_006269.2(RP1):c.510T>G (p.Val170=) rs1407578080
NM_006269.2(RP1):c.532C>T (p.Gln178Ter) rs2129314462
NM_006269.2(RP1):c.578G>C (p.Arg193Pro) rs754949406
NM_006269.2(RP1):c.606C>A (p.Asp202Glu) rs1805879513
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.615+1G>T rs886210482
NM_006269.2(RP1):c.6181del (p.Ile2061fs) rs775367880
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter) rs1585569717
NM_006269.2(RP1):c.6255A>T (p.Gln2085His) rs886062995
NM_006269.2(RP1):c.6423dup (p.Leu2142fs) rs1563333973
NM_006269.2(RP1):c.650del (p.Gly217fs) rs527236105
NM_006269.2(RP1):c.668del (p.Gly223fs) rs1231321479
NM_006269.2(RP1):c.679T>G (p.Phe227Val) rs863223340
NM_006269.2(RP1):c.688G>T (p.Gly230Ter) rs1585559122
NM_006269.2(RP1):c.6_7del (p.Ser2fs)
NM_006269.2(RP1):c.788-2_790del rs779627969
NM_006269.2(RP1):c.830_831del (p.Ser277fs) rs1585561400
NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)
NM_006269.2(RP1):c.883G>A (p.Val295Ile) rs1321792993
NM_006269.2(RP1):c.961_963del (p.Lys321del) rs2129315881

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