ClinVar Miner

List of variants in gene RPGRIP1L studied for Meckel syndrome, type 5

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Gene type:
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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008 0.37956
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155 0.37946
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_015272.5(RPGRIP1L):c.*491C>G rs35669682 0.00564
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905 0.00522
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_015272.5(RPGRIP1L):c.*1385A>G rs150194508 0.00201
NM_015272.5(RPGRIP1L):c.*1461A>T rs184079732 0.00195
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976 0.00108
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_015272.5(RPGRIP1L):c.*1510G>A rs140374059 0.00079
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896 0.00068
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475 0.00057
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00052
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151 0.00048
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732 0.00039
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009 0.00037
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_015272.5(RPGRIP1L):c.*1033G>A rs145688122 0.00032
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_015272.5(RPGRIP1L):c.*851C>A rs138437010 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772 0.00025
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441 0.00022
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421 0.00014
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_015272.5(RPGRIP1L):c.*588A>G rs894081042 0.00011
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798 0.00010
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086 0.00009
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612 0.00007
NM_015272.5(RPGRIP1L):c.*1276G>A rs375800554 0.00006
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090 0.00006
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087 0.00006
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508 0.00005
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_015272.5(RPGRIP1L):c.*1206C>T rs1437795784 0.00002
NM_015272.5(RPGRIP1L):c.*822A>G rs554221378 0.00002
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015272.5(RPGRIP1L):c.*107G>A rs770837632 0.00001
NM_015272.5(RPGRIP1L):c.*1597G>A rs1963334195 0.00001
NM_015272.5(RPGRIP1L):c.*1869A>G rs1224541215 0.00001
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818 0.00001
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840 0.00001
NM_015272.5(RPGRIP1L):c.*53G>A rs1963400312 0.00001
NM_015272.5(RPGRIP1L):c.1351-11A>G rs750076702 0.00001
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys) rs755258407 0.00001
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406 0.00001
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp) rs201737322 0.00001
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136 0.00001
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile) rs780672507 0.00001
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177 0.00001
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619 0.00001
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn) rs746806282 0.00001
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) rs776310931 0.00001
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val) rs1167981125 0.00001
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*125G>T rs868861934
NM_015272.5(RPGRIP1L):c.*133T>A rs1963396187
NM_015272.5(RPGRIP1L):c.*159T>G rs1963395143
NM_015272.5(RPGRIP1L):c.*1645A>T rs144554139
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*846A>T rs1963365021
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter) rs121918202
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys) rs776941281
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=) rs1967363312
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro) rs386833997
NM_015272.5(RPGRIP1L):c.2045T>G (p.Val682Gly)
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2581_2582insG (p.Leu861fs) rs1966500186
NM_015272.5(RPGRIP1L):c.2684-9A>G rs1211499888
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=) rs773361667
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter) rs121918201
NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter) rs1970430433
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys) rs376808910
NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs) rs386833998
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile) rs1195150584

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