ClinVar Miner

List of variants reported as likely pathogenic for not provided by Gharavi Laboratory, Columbia University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 192
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_004646.4(NPHS1):c.559G>A (p.Val187Met) rs199646884 0.00016
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg) rs368570508 0.00008
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372 0.00005
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_004621.6(TRPC6):c.2534T>G (p.Leu845Arg) rs1165923760 0.00004
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_014270.5(SLC7A9):c.325G>A (p.Ala109Thr) rs750849536 0.00003
NM_014813.3(LRIG2):c.1237G>T (p.Glu413Ter) rs1399525051 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_175914.5(HNF4A):c.658G>A (p.Val220Met) rs202105574 0.00002
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg) rs769683665 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.3820G>A (p.Gly1274Ser) rs1559914789 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123 0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs) rs1162601696 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 0.00001
NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser) rs1563630587 0.00001
NM_001126108.2(SLC12A3):c.2623G>A (p.Glu875Lys) rs1441228030 0.00001
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp) rs759426055 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln) rs1321659356 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) rs768210838 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu) rs1487910110 0.00001
NM_016341.4(PLCE1):c.2960A>G (p.His987Arg) rs762245091 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro) rs777276873 0.00001
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1087G>A (p.Gly363Arg) rs1559875465
NM_000091.5(COL4A3):c.1141G>C (p.Gly381Arg) rs1559876538
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg) rs917643323
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg) rs1559897288
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu) rs1559899600
NM_000091.5(COL4A3):c.3070+2T>C rs1173685095
NM_000091.5(COL4A3):c.3142G>C (p.Gly1048Arg) rs1559906448
NM_000091.5(COL4A3):c.3212G>A (p.Gly1071Glu) rs765128550
NM_000091.5(COL4A3):c.3275G>T (p.Gly1092Val) rs1559909513
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser) rs920061910
NM_000091.5(COL4A3):c.4010G>A (p.Gly1337Glu) rs779855573
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.5(COL4A3):c.88G>C (p.Gly30Arg) rs1559854632
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) rs1559872489
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg) rs1559617617
NM_000092.5(COL4A4):c.1423G>T (p.Gly475Cys) rs1371408968
NM_000092.5(COL4A4):c.2528G>A (p.Gly843Glu) rs1559515185
NM_000092.5(COL4A4):c.2545+2T>G rs1559515075
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs) rs1559677146
NM_000092.5(COL4A4):c.2870G>T (p.Gly957Val) rs1559503562
NM_000092.5(COL4A4):c.4175G>C (p.Gly1392Ala) rs1559429663
NM_000092.5(COL4A4):c.4311_4315dup (p.Gly1439fs) rs1559406956
NM_000092.5(COL4A4):c.4429G>T (p.Glu1477Ter) rs1367906290
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000141.5(FGFR2):c.1717C>T (p.Arg573Ter) rs1564875577
NM_000169.3(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000216.4(ANOS1):c.397dup (p.Asp133fs) rs1569059249
NM_000276.4(OCRL):c.952C>A (p.Arg318Ser) rs137853263
NM_000278.5(PAX2):c.113G>A (p.Arg38Lys) rs1564706226
NM_000278.5(PAX2):c.219C>G (p.Tyr73Ter) rs139724326
NM_000278.5(PAX2):c.220G>T (p.Glu74Ter) rs754146050
NM_000278.5(PAX2):c.265A>T (p.Lys89Ter) rs1564706973
NM_000278.5(PAX2):c.433C>T (p.Gln145Ter) rs1564722420
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs) rs1560626561
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln) rs567478582
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser) rs904926333
NM_000341.4(SLC3A1):c.766-1G>T rs1558455633
NM_000341.4(SLC3A1):c.777T>G (p.Tyr259Ter) rs1558455640
NM_000388.4(CASR):c.2165del (p.Asn722fs) rs1559968729
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
NM_000503.6(EYA1):c.640G>A (p.Asp214Asn) rs1563422500
NM_000535.7(PMS2):c.706-2A>T rs745487791
NM_000537.4(REN):c.116T>A (p.Met39Lys) rs1558245626
NM_000545.8(HNF1A):c.59G>T (p.Gly20Val) rs1566092362
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000548.5(TSC2):c.2870dup (p.Leu957fs) rs1567490680
NM_001009944.3(PKD1):c.1039_1045del (p.Gly347fs) rs1567217194
NM_001009944.3(PKD1):c.10998del (p.Arg3666fs) rs1567157447
NM_001009944.3(PKD1):c.11251_11266del (p.Gln3751fs) rs1567154939
NM_001009944.3(PKD1):c.12444G>C (p.Glu4148Asp) rs1567145638
NM_001009944.3(PKD1):c.12445-2A>T rs1555444334
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12718G>T (p.Glu4240Ter) rs1567143705
NM_001009944.3(PKD1):c.1420C>T (p.Gln474Ter) rs1567215646
NM_001009944.3(PKD1):c.1439del (p.Pro480fs) rs1567215590
NM_001009944.3(PKD1):c.1903dup (p.Gln635fs) rs1567213083
NM_001009944.3(PKD1):c.275del (p.Ala92fs) rs1567219735
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.4110_4113del (p.His1369_Tyr1370insTer) rs1567201338
NM_001009944.3(PKD1):c.5937C>A (p.Cys1979Ter) rs754333013
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs) rs1567192623
NM_001009944.3(PKD1):c.7274del (p.Gly2425fs) rs1567186399
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.741_742dup (p.Cys248fs) rs1567218104
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_001009944.3(PKD1):c.8423T>C (p.Ile2808Thr) rs1567177764
NM_001009944.3(PKD1):c.9231dup (p.Met3078fs) rs1567173968
NM_001009944.3(PKD1):c.9518del (p.Pro3173fs) rs1567171182
NM_001009944.3(PKD1):c.9558C>G (p.His3186Gln) rs765094547
NM_001009944.3(PKD1):c.9563A>T (p.Asn3188Ile) rs1567171059
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042681.2(RERE):c.3039dup (p.Pro1014fs) rs1557586047
NM_001122630.2(CDKN1C):c.573_574del (p.Ala192fs) rs1564929735
NM_001127898.4(CLCN5):c.2116C>T (p.Leu706Phe) rs1569540502
NM_001276345.2(TNNT2):c.719+2T>A rs113984578
NM_001360.3(DHCR7):c.895C>T (p.His299Tyr) rs745498103
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001395656.1(ROBO2):c.95G>A (p.Arg32Gln) rs754279676
NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu) rs1557891760
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter) rs1567316325
NM_003002.4(SDHD):c.411del (p.Leu139fs) rs1566702771
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.205T>A (p.Cys69Ser) rs1567311279
NM_003361.4(UMOD):c.255C>A (p.Asn85Lys) rs750535100
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys) rs1567309582
NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs) rs1567262786
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs) rs587783507
NM_004621.6(TRPC6):c.2284G>A (p.Val762Ile) rs1565206758
NM_004621.6(TRPC6):c.266G>T (p.Ser89Ile) rs1565221699
NM_004621.6(TRPC6):c.434A>G (p.His145Arg) rs1565221486
NM_004646.4(NPHS1):c.1592G>T (p.Gly531Val) rs1281962144
NM_005378.6(MYCN):c.228dup (p.Trp77fs) rs1558533831
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del) rs1560418164
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006306.4(SMC1A):c.855-2A>G rs1569358774
NM_013336.4(SEC61A1):c.1284C>G (p.Ile428Met) rs147461692
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter) rs1007096305
NM_014270.5(SLC7A9):c.141del (p.Ile48fs) rs1568532461
NM_014813.3(LRIG2):c.1569C>A (p.Ser523Arg) rs1557914199
NM_015102.5(NPHP4):c.1149_1150insCC (p.Ala384fs) rs1557768696
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs) rs1557580413
NM_015443.4(KANSL1):c.2902del (p.Gln968fs) rs1374665357
NM_016592.5(GNAS):c.3G>A (p.Met1Ile) rs1568906610
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln) rs1561586322
NM_022489.4(INF2):c.254C>T (p.Ser85Leu) rs1317776692
NM_022489.4(INF2):c.452G>A (p.Cys151Tyr) rs1566778512
NM_022489.4(INF2):c.530G>A (p.Arg177His) rs1566778651
NM_022489.4(INF2):c.530G>C (p.Arg177Pro) rs1566778651
NM_022489.4(INF2):c.89T>G (p.Leu30Arg) rs1566777417
NM_024426.6(WT1):c.1448G>A (p.Ser483Asn) rs1564967706
NM_024529.5(CDC73):c.430G>T (p.Glu144Ter) rs1558283535
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val) rs1569493679
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.3017G>A (p.Gly1006Asp) rs104886202
NM_033380.3(COL4A5):c.3170G>T (p.Gly1057Val) rs1569499010
NM_033380.3(COL4A5):c.3310G>T (p.Gly1104Cys) rs1569504072
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.395G>A (p.Gly132Glu) rs1569488841
NM_033380.3(COL4A5):c.4159_4170del (p.Pro1387_Pro1390del) rs1569507550
NM_033380.3(COL4A5):c.4315G>C (p.Gly1439Arg) rs1569508169
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_033380.3(COL4A5):c.546+4_546+7del rs1569489348
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592
NM_170784.3(MKKS):c.624_625del (p.Arg208fs) rs762613490
NM_213606.4(SLC16A12):c.662del (p.Gly221fs) rs1564568546

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.