ClinVar Miner

List of variants in gene RERE reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 145
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042681.2(RERE):c.3395+5G>A rs571432854 0.00005
NM_001042681.2(RERE):c.1745C>T (p.Ser582Leu) rs377540500 0.00004
NM_001042681.2(RERE):c.2483C>G (p.Pro828Arg) rs923542726 0.00003
NM_001042681.2(RERE):c.4195G>C (p.Glu1399Gln) rs765164005 0.00003
NM_001042681.2(RERE):c.1013C>T (p.Ala338Val) rs1206233080 0.00001
NM_001042681.2(RERE):c.1016C>T (p.Ala339Val) rs992236684 0.00001
NM_001042681.2(RERE):c.2036C>T (p.Ser679Leu) rs1251921269 0.00001
NM_001042681.2(RERE):c.2083G>A (p.Asp695Asn) rs1220737626 0.00001
NM_001042681.2(RERE):c.2461T>C (p.Ser821Pro) rs897627996 0.00001
NM_001042681.2(RERE):c.2462C>T (p.Ser821Leu) rs1057518295 0.00001
NM_001042681.2(RERE):c.3406C>T (p.His1136Tyr) rs1482200788 0.00001
NM_001042681.2(RERE):c.3697G>A (p.Glu1233Lys) rs766806549 0.00001
NM_001042681.2(RERE):c.4010T>G (p.Leu1337Arg) rs1241389381 0.00001
NM_001042681.2(RERE):c.4349G>T (p.Gly1450Val) rs1174096486 0.00001
NM_001042681.2(RERE):c.4361C>T (p.Pro1454Leu) rs369579455 0.00001
NM_001042681.2(RERE):c.1141C>A (p.Gln381Lys) rs1644591212
NM_001042681.2(RERE):c.1145G>A (p.Arg382His)
NM_001042681.2(RERE):c.1247T>G (p.Phe416Cys) rs2521311551
NM_001042681.2(RERE):c.1284+5G>A rs2124472378
NM_001042681.2(RERE):c.1324C>G (p.Pro442Ala)
NM_001042681.2(RERE):c.1351C>T (p.Arg451Cys)
NM_001042681.2(RERE):c.1352G>A (p.Arg451His)
NM_001042681.2(RERE):c.1450G>T (p.Asp484Tyr)
NM_001042681.2(RERE):c.1549G>A (p.Asp517Asn)
NM_001042681.2(RERE):c.1589C>T (p.Thr530Ile)
NM_001042681.2(RERE):c.1598G>A (p.Arg533His) rs868352927
NM_001042681.2(RERE):c.1603C>T (p.His535Tyr) rs2522738286
NM_001042681.2(RERE):c.1609A>C (p.Lys537Gln)
NM_001042681.2(RERE):c.1657C>A (p.Pro553Thr) rs1131691493
NM_001042681.2(RERE):c.1762C>T (p.Arg588Trp) rs1641641189
NM_001042681.2(RERE):c.1766A>C (p.Lys589Thr) rs2124372483
NM_001042681.2(RERE):c.1787A>T (p.Asp596Val)
NM_001042681.2(RERE):c.1799_1802delinsG (p.Ser600_Pro601delinsCys) rs764511684
NM_001042681.2(RERE):c.179A>G (p.Asp60Gly) rs1085307646
NM_001042681.2(RERE):c.1828G>T (p.Gly610Cys)
NM_001042681.2(RERE):c.1875A>G (p.Lys625=) rs2522730289
NM_001042681.2(RERE):c.1902G>A (p.Lys634=) rs1234776650
NM_001042681.2(RERE):c.1902G>C (p.Lys634Asn) rs1234776650
NM_001042681.2(RERE):c.1931T>G (p.Leu644Arg)
NM_001042681.2(RERE):c.1946G>A (p.Arg649His) rs777899098
NM_001042681.2(RERE):c.1966T>G (p.Ser656Ala) rs2522725286
NM_001042681.2(RERE):c.1970A>C (p.Asp657Ala) rs1641592075
NM_001042681.2(RERE):c.2016+2dup
NM_001042681.2(RERE):c.2144_2145delinsCT (p.Ile715Thr) rs2124369272
NM_001042681.2(RERE):c.2155C>A (p.Gln719Lys)
NM_001042681.2(RERE):c.2164G>A (p.Glu722Lys) rs2522721372
NM_001042681.2(RERE):c.2235_2375del (p.Gly746_Thr792del) rs2522719655
NM_001042681.2(RERE):c.2286del (p.Thr763fs) rs1553155576
NM_001042681.2(RERE):c.2303C>G (p.Pro768Arg)
NM_001042681.2(RERE):c.2324C>G (p.Pro775Arg) rs1641562404
NM_001042681.2(RERE):c.2336C>G (p.Pro779Arg) rs1290122807
NM_001042681.2(RERE):c.2368G>T (p.Ala790Ser)
NM_001042681.2(RERE):c.2369C>G (p.Ala790Gly)
NM_001042681.2(RERE):c.238C>G (p.Pro80Ala)
NM_001042681.2(RERE):c.2392A>T (p.Thr798Ser)
NM_001042681.2(RERE):c.2396A>T (p.His799Leu)
NM_001042681.2(RERE):c.2449_2460dup (p.Pro817_Pro820dup) rs749071713
NM_001042681.2(RERE):c.2450CGC[3] (p.Pro818dup) rs1641553801
NM_001042681.2(RERE):c.2453_2476del (p.Pro818_Pro825del)
NM_001042681.2(RERE):c.2465_2476del (p.Pro822_Pro825del) rs1557587054
NM_001042681.2(RERE):c.2533C>T (p.Pro845Ser) rs2124367994
NM_001042681.2(RERE):c.2554C>T (p.Pro852Ser) rs2124367953
NM_001042681.2(RERE):c.256T>C (p.Tyr86His) rs2522624774
NM_001042681.2(RERE):c.2603C>T (p.Pro868Leu)
NM_001042681.2(RERE):c.2605C>G (p.Pro869Ala)
NM_001042681.2(RERE):c.2667AGC[2] (p.Ala892del) rs2522716607
NM_001042681.2(RERE):c.2752C>G (p.Leu918Val)
NM_001042681.2(RERE):c.2792C>T (p.Pro931Leu) rs1466398738
NM_001042681.2(RERE):c.2834A>G (p.His945Arg) rs2124367224
NM_001042681.2(RERE):c.284C>T (p.Thr95Ile)
NM_001042681.2(RERE):c.2877G>T (p.Met959Ile) rs2124367048
NM_001042681.2(RERE):c.2893C>G (p.Pro965Ala) rs2124367007
NM_001042681.2(RERE):c.2893C>T (p.Pro965Ser)
NM_001042681.2(RERE):c.2924T>A (p.Leu975Gln)
NM_001042681.2(RERE):c.2953C>T (p.Pro985Ser)
NM_001042681.2(RERE):c.3081G>T (p.Gln1027His)
NM_001042681.2(RERE):c.3109C>T (p.His1037Tyr)
NM_001042681.2(RERE):c.3135_3149del (p.Pro1046_Pro1050del)
NM_001042681.2(RERE):c.3149C>A (p.Pro1050Gln) rs764049309
NM_001042681.2(RERE):c.3212C>G (p.Ser1071Cys)
NM_001042681.2(RERE):c.3235_3240delinsCAT (p.Ser1079_Ile1080delinsHis)
NM_001042681.2(RERE):c.3274C>A (p.Gln1092Lys) rs2522710946
NM_001042681.2(RERE):c.3299A>G (p.Asp1100Gly) rs2522710673
NM_001042681.2(RERE):c.3309G>T (p.Glu1103Asp)
NM_001042681.2(RERE):c.3319C>A (p.Pro1107Thr) rs1339490148
NM_001042681.2(RERE):c.3329C>T (p.Pro1110Leu) rs762952257
NM_001042681.2(RERE):c.3353C>G (p.Pro1118Arg)
NM_001042681.2(RERE):c.3395+5G>T rs571432854
NM_001042681.2(RERE):c.3407A>G (p.His1136Arg)
NM_001042681.2(RERE):c.3428C>T (p.Ser1143Leu)
NM_001042681.2(RERE):c.3437G>A (p.Arg1146Gln) rs2124364640
NM_001042681.2(RERE):c.344G>A (p.Ser115Asn) rs1570529719
NM_001042681.2(RERE):c.3506A>G (p.Lys1169Arg) rs2522706964
NM_001042681.2(RERE):c.3521C>T (p.Ala1174Val) rs2522706739
NM_001042681.2(RERE):c.3544C>G (p.Arg1182Gly) rs2124364403
NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4]) rs201570536
NM_001042681.2(RERE):c.3573G>T (p.Glu1191Asp) rs2124364236
NM_001042681.2(RERE):c.3587G>C (p.Arg1196Pro)
NM_001042681.2(RERE):c.3659C>T (p.Pro1220Leu)
NM_001042681.2(RERE):c.3677G>A (p.Gly1226Asp) rs1641424161
NM_001042681.2(RERE):c.3716T>C (p.Ile1239Thr) rs2522697810
NM_001042681.2(RERE):c.3743C>T (p.Pro1248Leu)
NM_001042681.2(RERE):c.3746A>G (p.Asp1249Gly) rs2522697573
NM_001042681.2(RERE):c.3772G>C (p.Glu1258Gln) rs1346189086
NM_001042681.2(RERE):c.3784C>A (p.Pro1262Thr)
NM_001042681.2(RERE):c.379A>G (p.Ile127Val)
NM_001042681.2(RERE):c.3803C>A (p.Thr1268Asn) rs1641415262
NM_001042681.2(RERE):c.3863A>C (p.His1288Pro) rs2522696861
NM_001042681.2(RERE):c.3868C>T (p.Pro1290Ser)
NM_001042681.2(RERE):c.3892A>G (p.Thr1298Ala)
NM_001042681.2(RERE):c.3910_3924dup (p.Glu1308_Ile1309insLeuArgGluArgGlu) rs754280682
NM_001042681.2(RERE):c.3926T>G (p.Ile1309Ser) rs2522696145
NM_001042681.2(RERE):c.3943_3945delinsTGG (p.Arg1315Trp)
NM_001042681.2(RERE):c.3982G>A (p.Glu1328Lys) rs1320714042
NM_001042681.2(RERE):c.4007C>T (p.Pro1336Leu) rs2124359972
NM_001042681.2(RERE):c.4050C>G (p.His1350Gln) rs1260124916
NM_001042681.2(RERE):c.4168A>G (p.Met1390Val)
NM_001042681.2(RERE):c.4189G>A (p.Ala1397Thr) rs1481358827
NM_001042681.2(RERE):c.4189G>T (p.Ala1397Ser) rs1481358827
NM_001042681.2(RERE):c.4195G>A (p.Glu1399Lys)
NM_001042681.2(RERE):c.4264G>C (p.Val1422Leu) rs529548316
NM_001042681.2(RERE):c.4391A>C (p.His1464Pro)
NM_001042681.2(RERE):c.4406C>G (p.Pro1469Arg) rs2522680624
NM_001042681.2(RERE):c.440T>C (p.Leu147Ser)
NM_001042681.2(RERE):c.4420A>G (p.Thr1474Ala) rs2124354116
NM_001042681.2(RERE):c.4455C>A (p.His1485Gln) rs200568184
NM_001042681.2(RERE):c.4456G>A (p.Glu1486Lys)
NM_001042681.2(RERE):c.4468C>T (p.Leu1490Phe) rs1641282648
NM_001042681.2(RERE):c.4475A>C (p.His1492Pro) rs2522680138
NM_001042681.2(RERE):c.4487-7T>A
NM_001042681.2(RERE):c.4511C>T (p.Pro1504Leu)
NM_001042681.2(RERE):c.4514G>A (p.Gly1505Glu)
NM_001042681.2(RERE):c.4562A>G (p.His1521Arg) rs1313492554
NM_001042681.2(RERE):c.4646C>G (p.Pro1549Arg)
NM_001042681.2(RERE):c.4680_4683del (p.Glu1561fs)
NM_001042681.2(RERE):c.4698A>C (p.Leu1566Phe)
NM_001042681.2(RERE):c.538C>A (p.Leu180Ile) rs2124425451
NM_001042681.2(RERE):c.748T>G (p.Phe250Val)
NM_001042681.2(RERE):c.762T>G (p.Phe254Leu) rs2522088604
NM_001042681.2(RERE):c.788T>C (p.Val263Ala)
NM_001042681.2(RERE):c.821C>A (p.Pro274His)
NM_001042681.2(RERE):c.859C>A (p.Arg287Ser) rs1447924337
NM_001042681.2(RERE):c.890C>G (p.Pro297Arg) rs1645061321
NM_001042681.2(RERE):c.902C>T (p.Pro301Leu) rs1336882357
NM_001042681.2(RERE):c.911C>G (p.Ser304Cys) rs2124243426

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.