ClinVar Miner

List of variants in gene RPGRIP1L reported as uncertain significance for not provided

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Gene type:
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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427 0.00146
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591 0.00118
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.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr) rs919333754 0.00046
NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val) rs143515432 0.00038
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.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val) rs147046186 0.00026
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys) rs375776718 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015272.5(RPGRIP1L):c.481C>T (p.Arg161Cys) rs374860980 0.00015
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile) rs141838831 0.00014
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp) rs376720589 0.00011
NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile) rs138383101 0.00011
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn) rs769686672 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.2914G>A (p.Asp972Asn) rs138777811 0.00007
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro) rs150099624 0.00006
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) rs794727129 0.00006
NM_015272.5(RPGRIP1L):c.279G>C (p.Glu93Asp) rs762264695 0.00006
NM_015272.5(RPGRIP1L):c.3544C>G (p.Pro1182Ala) rs61742648 0.00006
NM_015272.5(RPGRIP1L):c.3832G>A (p.Asp1278Asn) rs370655253 0.00006
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys) rs527539036 0.00006
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly) rs752128105 0.00004
NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=) rs376335724 0.00004
NM_015272.5(RPGRIP1L):c.1401+4A>G rs727503880 0.00004
NM_015272.5(RPGRIP1L):c.1805G>A (p.Arg602Gln) rs902687917 0.00004
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=) rs145807002 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.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015272.5(RPGRIP1L):c.709A>T (p.Arg237Trp) rs369055168 0.00004
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala) rs202201818 0.00003
NM_015272.5(RPGRIP1L):c.167G>A (p.Arg56His) rs374157187 0.00003
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys) rs766404857 0.00003
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg) rs780023355 0.00003
NM_015272.5(RPGRIP1L):c.2425C>G (p.Leu809Val) rs370180090 0.00003
NM_015272.5(RPGRIP1L):c.250C>T (p.Arg84Trp) rs770098954 0.00003
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys) rs1030543863 0.00003
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093 0.00003
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) rs142387463 0.00003
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571 0.00002
NM_015272.5(RPGRIP1L):c.281G>A (p.Arg94Gln) rs549881475 0.00002
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) rs146484603 0.00002
NM_015272.5(RPGRIP1L):c.3878G>C (p.Arg1293Thr) rs776074152 0.00002
NM_015272.5(RPGRIP1L):c.116G>A (p.Arg39His) rs886042345 0.00001
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu) rs770032567 0.00001
NM_015272.5(RPGRIP1L):c.1330C>T (p.Arg444Cys) rs1296403401 0.00001
NM_015272.5(RPGRIP1L):c.1700C>T (p.Ala567Val) rs553739434 0.00001
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) rs779429646 0.00001
NM_015272.5(RPGRIP1L):c.1990C>G (p.His664Asp) rs763167296 0.00001
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys) rs775007896 0.00001
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872 0.00001
NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=) rs794727193 0.00001
NM_015272.5(RPGRIP1L):c.2878C>T (p.Pro960Ser) rs1187280209 0.00001
NM_015272.5(RPGRIP1L):c.2899C>T (p.Arg967Cys) rs759942433 0.00001
NM_015272.5(RPGRIP1L):c.3432+6T>G rs543688285 0.00001
NM_015272.5(RPGRIP1L):c.3475A>G (p.Asn1159Asp) rs774549370 0.00001
NM_015272.5(RPGRIP1L):c.3476A>G (p.Asn1159Ser) rs1964560874 0.00001
NM_015272.5(RPGRIP1L):c.455A>G (p.Asn152Ser) rs1181172841 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
GRCh37/hg19 16q12.2(chr16:53639297-53701364)x1
NM_015272.5(RPGRIP1L):c.1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1652A>T (p.Tyr551Phe) rs1307023675
NM_015272.5(RPGRIP1L):c.1700-16G>T rs1555604481
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=) rs1555604462
NM_015272.5(RPGRIP1L):c.1729A>T (p.Lys577Ter) rs1567841755
NM_015272.5(RPGRIP1L):c.1820T>C (p.Phe607Ser)
NM_015272.5(RPGRIP1L):c.1877A>G (p.Asp626Gly) rs1437729375
NM_015272.5(RPGRIP1L):c.1892C>T (p.Thr631Ile) rs1567841081
NM_015272.5(RPGRIP1L):c.1904A>G (p.Tyr635Cys)
NM_015272.5(RPGRIP1L):c.2117A>C (p.Lys706Thr) rs1429164270
NM_015272.5(RPGRIP1L):c.2218G>A (p.Asp740Asn) rs755481580
NM_015272.5(RPGRIP1L):c.2358T>C (p.Asp786=) rs1468139751
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu) rs2151082906
NM_015272.5(RPGRIP1L):c.2489T>C (p.Ile830Thr) rs1966505882
NM_015272.5(RPGRIP1L):c.2599GAT[1] (p.Asp868del) rs2151082025
NM_015272.5(RPGRIP1L):c.2716C>T (p.Pro906Ser) rs727503875
NM_015272.5(RPGRIP1L):c.2874+3_2874+6del
NM_015272.5(RPGRIP1L):c.2963C>T (p.Thr988Ile)
NM_015272.5(RPGRIP1L):c.3221-3C>T
NM_015272.5(RPGRIP1L):c.3285dup (p.Ile1096fs) rs1567818463
NM_015272.5(RPGRIP1L):c.3295-2A>G rs1258182460
NM_015272.5(RPGRIP1L):c.3428C>A (p.Thr1143Asn) rs111775292
NM_015272.5(RPGRIP1L):c.3428C>T (p.Thr1143Ile)
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=) rs750930363
NM_015272.5(RPGRIP1L):c.349G>A (p.Glu117Lys)
NM_015272.5(RPGRIP1L):c.3659T>C (p.Ile1220Thr) rs2150938312
NM_015272.5(RPGRIP1L):c.3713C>T (p.Thr1238Ile) rs1064796997
NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
NM_015272.5(RPGRIP1L):c.460C>G (p.Gln154Glu) rs773976897
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp) rs987512823
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs) rs1567902051
NM_015272.5(RPGRIP1L):c.740TTC[1] (p.Leu248del)
NM_015272.5(RPGRIP1L):c.752G>A (p.Arg251Gln)
NM_015272.5(RPGRIP1L):c.777G>A (p.Arg259=) rs1490733899
NM_015272.5(RPGRIP1L):c.882+3A>G rs1969042020

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