ClinVar Miner

List of variants in gene IQCB1 reported as uncertain significance for Nephronophthisis

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Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_001023570.4(IQCB1):c.560T>A (p.Met187Lys) rs146796158 0.00067
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) rs146580215 0.00036
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln) rs772153735 0.00015
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln) rs532987681 0.00010
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn) rs137890014 0.00009
NM_001023570.4(IQCB1):c.1324G>T (p.Ala442Ser) rs780327292 0.00008
NM_001023570.4(IQCB1):c.68A>G (p.Gln23Arg) rs200205161 0.00008
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr) rs150073223 0.00007
NM_001023570.4(IQCB1):c.1751G>A (p.Ser584Asn) rs762365184 0.00006
NM_001023570.4(IQCB1):c.245A>G (p.Gln82Arg) rs373644565 0.00006
NM_001023570.4(IQCB1):c.986+5A>C rs188368640 0.00006
NM_001023570.4(IQCB1):c.1093G>A (p.Glu365Lys) rs371844518 0.00004
NM_001023570.4(IQCB1):c.1151G>A (p.Arg384Gln) rs773223673 0.00004
NM_001023570.4(IQCB1):c.118C>T (p.Pro40Ser) rs750396752 0.00004
NM_001023570.4(IQCB1):c.1278+3G>A rs760377282 0.00004
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) rs778777318 0.00004
NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg) rs149207095 0.00004
NM_001023570.4(IQCB1):c.1657C>T (p.His553Tyr) rs766439338 0.00004
NM_001023570.4(IQCB1):c.458T>C (p.Leu153Ser) rs368772723 0.00004
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) rs376700204 0.00004
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr) rs776989189 0.00003
NM_001023570.4(IQCB1):c.1567+3A>G rs1403759372 0.00003
NM_001023570.4(IQCB1):c.1632_1638dup (p.Ala547fs) rs767295178 0.00003
NM_001023570.4(IQCB1):c.1681C>G (p.Gln561Glu) rs750584360 0.00003
NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile) rs1001594561 0.00003
NM_001023570.4(IQCB1):c.620T>C (p.Leu207Pro) rs764639627 0.00003
NM_001023570.4(IQCB1):c.62C>T (p.Pro21Leu) rs370459157 0.00003
NM_001023570.4(IQCB1):c.730A>G (p.Ile244Val) rs1040002145 0.00003
NM_001023570.4(IQCB1):c.904C>G (p.Gln302Glu) rs756776335 0.00003
NM_001023570.4(IQCB1):c.911A>G (p.Tyr304Cys) rs147164945 0.00003
NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val) rs143553764 0.00002
NM_001023570.4(IQCB1):c.1046A>G (p.Lys349Arg) rs200158965 0.00002
NM_001023570.4(IQCB1):c.1271A>G (p.Gln424Arg) rs545361604 0.00002
NM_001023570.4(IQCB1):c.1304G>A (p.Arg435His) rs146832128 0.00002
NM_001023570.4(IQCB1):c.1334G>A (p.Arg445Gln) rs377265463 0.00002
NM_001023570.4(IQCB1):c.1367T>G (p.Val456Gly) rs1456257526 0.00002
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) rs147708058 0.00002
NM_001023570.4(IQCB1):c.155A>G (p.Asp52Gly) rs763814255 0.00002
NM_001023570.4(IQCB1):c.1567+5del rs1318948819 0.00002
NM_001023570.4(IQCB1):c.1634T>C (p.Val545Ala) rs753029218 0.00002
NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His) rs1283756243 0.00002
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374 0.00002
NM_001023570.4(IQCB1):c.877-8C>G rs779916519 0.00002
NM_001023570.4(IQCB1):c.884A>G (p.His295Arg) rs377524012 0.00002
NM_001023570.4(IQCB1):c.1040A>T (p.Asp347Val) rs1362995395 0.00001
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp) rs760548277 0.00001
NM_001023570.4(IQCB1):c.1279-16A>G rs754160972 0.00001
NM_001023570.4(IQCB1):c.1295C>T (p.Ala432Val) rs150129899 0.00001
NM_001023570.4(IQCB1):c.1364G>A (p.Arg455Gln) rs766072332 0.00001
NM_001023570.4(IQCB1):c.1406A>G (p.His469Arg) rs898997712 0.00001
NM_001023570.4(IQCB1):c.1420A>G (p.Met474Val) rs764720012 0.00001
NM_001023570.4(IQCB1):c.1447C>G (p.His483Asp) rs746090954 0.00001
NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln) rs200367729 0.00001
NM_001023570.4(IQCB1):c.1550A>G (p.Asn517Ser) rs774106373 0.00001
NM_001023570.4(IQCB1):c.1552G>A (p.Val518Ile) rs1484442908 0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001023570.4(IQCB1):c.1573C>A (p.Pro525Thr) rs1445502603 0.00001
NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg) rs1390983530 0.00001
NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val) rs542335278 0.00001
NM_001023570.4(IQCB1):c.215G>A (p.Arg72Gln) rs777328728 0.00001
NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr) rs370233738 0.00001
NM_001023570.4(IQCB1):c.281T>G (p.Leu94Trp) rs1482031301 0.00001
NM_001023570.4(IQCB1):c.369A>C (p.Gln123His) rs970350621 0.00001
NM_001023570.4(IQCB1):c.446T>C (p.Leu149Pro) rs1949717977 0.00001
NM_001023570.4(IQCB1):c.514T>A (p.Leu172Ile) rs139516260 0.00001
NM_001023570.4(IQCB1):c.532G>A (p.Val178Ile) rs1272185942 0.00001
NM_001023570.4(IQCB1):c.539T>C (p.Ile180Thr) rs1336635253 0.00001
NM_001023570.4(IQCB1):c.622T>C (p.Tyr208His) rs1373905023 0.00001
NM_001023570.4(IQCB1):c.636T>G (p.Asp212Glu) rs202164315 0.00001
NM_001023570.4(IQCB1):c.692C>T (p.Thr231Ile) rs1278873318 0.00001
NM_001023570.4(IQCB1):c.761A>G (p.Tyr254Cys) rs1484417223 0.00001
NM_001023570.4(IQCB1):c.766+5T>C rs941589350 0.00001
NM_001023570.4(IQCB1):c.767-9C>A rs758067297 0.00001
NM_001023570.4(IQCB1):c.850A>G (p.Met284Val) rs148569732 0.00001
NM_001023570.4(IQCB1):c.853G>T (p.Val285Phe) rs1467393686 0.00001
NM_001023570.4(IQCB1):c.86T>C (p.Leu29Pro) rs760120237 0.00001
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val) rs756107852 0.00001
NM_001023570.4(IQCB1):c.90G>C (p.Leu30Phe) rs1246747991 0.00001
NM_001023570.4(IQCB1):c.952C>G (p.Pro318Ala) rs749043070 0.00001
NM_001023570.4(IQCB1):c.980G>A (p.Ser327Asn) rs377493667 0.00001
NC_000003.11:g.(?_121489192)_(121489441_?)del
NM_001023570.4(IQCB1):c.1000A>G (p.Lys334Glu) rs532987681
NM_001023570.4(IQCB1):c.1069C>G (p.Gln357Glu)
NM_001023570.4(IQCB1):c.1075G>T (p.Ala359Ser)
NM_001023570.4(IQCB1):c.1125T>G (p.His375Gln)
NM_001023570.4(IQCB1):c.115A>C (p.Thr39Pro)
NM_001023570.4(IQCB1):c.115A>G (p.Thr39Ala)
NM_001023570.4(IQCB1):c.1181T>G (p.Ile394Ser) rs2108543749
NM_001023570.4(IQCB1):c.1184A>T (p.Gln395Leu)
NM_001023570.4(IQCB1):c.1190A>G (p.His397Arg)
NM_001023570.4(IQCB1):c.1210A>G (p.Arg404Gly) rs1354344876
NM_001023570.4(IQCB1):c.1226A>G (p.Gln409Arg) rs368525345
NM_001023570.4(IQCB1):c.1235A>T (p.Gln412Leu) rs199533438
NM_001023570.4(IQCB1):c.1240C>G (p.Leu414Val) rs1948818458
NM_001023570.4(IQCB1):c.1240C>T (p.Leu414Phe) rs1948818458
NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe) rs777697438
NM_001023570.4(IQCB1):c.1253A>C (p.Lys418Thr)
NM_001023570.4(IQCB1):c.1274G>A (p.Arg425Lys) rs1450149889
NM_001023570.4(IQCB1):c.1280C>A (p.Ala427Glu) rs138646990
NM_001023570.4(IQCB1):c.1280C>T (p.Ala427Val) rs138646990
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro) rs749515337
NM_001023570.4(IQCB1):c.1360C>T (p.Arg454Cys)
NM_001023570.4(IQCB1):c.1363C>A (p.Arg455=) rs866982675
NM_001023570.4(IQCB1):c.1369G>C (p.Glu457Gln)
NM_001023570.4(IQCB1):c.1399A>G (p.Arg467Gly)
NM_001023570.4(IQCB1):c.139A>G (p.Lys47Glu)
NM_001023570.4(IQCB1):c.1411-6T>A
NM_001023570.4(IQCB1):c.1418C>T (p.Pro473Leu)
NM_001023570.4(IQCB1):c.142A>G (p.Lys48Glu)
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr) rs776788131
NM_001023570.4(IQCB1):c.1484T>C (p.Met495Thr) rs2108507338
NM_001023570.4(IQCB1):c.1487G>A (p.Gly496Asp)
NM_001023570.4(IQCB1):c.1491G>T (p.Arg497Ser) rs1346401319
NM_001023570.4(IQCB1):c.1498G>A (p.Glu500Lys)
NM_001023570.4(IQCB1):c.1499A>G (p.Glu500Gly)
NM_001023570.4(IQCB1):c.1516C>A (p.His506Asn) rs2108507224
NM_001023570.4(IQCB1):c.153A>C (p.Gln51His) rs773874600
NM_001023570.4(IQCB1):c.1549A>G (p.Asn517Asp) rs139468837
NM_001023570.4(IQCB1):c.1567+4T>C
NM_001023570.4(IQCB1):c.1573C>T (p.Pro525Ser)
NM_001023570.4(IQCB1):c.1574_1576del (p.Pro525_Ser526delinsArg)
NM_001023570.4(IQCB1):c.1589C>A (p.Ala530Glu) rs2108503429
NM_001023570.4(IQCB1):c.1655C>T (p.Ala552Val)
NM_001023570.4(IQCB1):c.1667C>T (p.Thr556Ile) rs2108503202
NM_001023570.4(IQCB1):c.1675C>G (p.His559Asp) rs1947924234
NM_001023570.4(IQCB1):c.1678A>G (p.Ile560Val)
NM_001023570.4(IQCB1):c.1687C>G (p.Pro563Ala)
NM_001023570.4(IQCB1):c.1688C>G (p.Pro563Arg) rs767653545
NM_001023570.4(IQCB1):c.16A>G (p.Thr6Ala) rs749733618
NM_001023570.4(IQCB1):c.1706G>C (p.Gly569Ala)
NM_001023570.4(IQCB1):c.1711G>T (p.Glu571Ter) rs2108503098
NM_001023570.4(IQCB1):c.1720G>A (p.Asp574Asn)
NM_001023570.4(IQCB1):c.1738A>C (p.Lys580Gln) rs2108503039
NM_001023570.4(IQCB1):c.1769T>G (p.Leu590Ter) rs1947917811
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly) rs201405662
NM_001023570.4(IQCB1):c.264-3C>T rs1950460725
NM_001023570.4(IQCB1):c.295G>A (p.Asp99Asn) rs1950459236
NM_001023570.4(IQCB1):c.298G>A (p.Ala100Thr)
NM_001023570.4(IQCB1):c.29T>A (p.Ile10Asn)
NM_001023570.4(IQCB1):c.314A>G (p.Asn105Ser) rs1950458495
NM_001023570.4(IQCB1):c.319T>A (p.Leu107Ile) rs2108637533
NM_001023570.4(IQCB1):c.332C>T (p.Ala111Val)
NM_001023570.4(IQCB1):c.340A>C (p.Asn114His) rs2108637450
NM_001023570.4(IQCB1):c.362A>G (p.Gln121Arg) rs2108637383
NM_001023570.4(IQCB1):c.366A>C (p.Leu122Phe) rs766755059
NM_001023570.4(IQCB1):c.369A>T (p.Gln123His) rs970350621
NM_001023570.4(IQCB1):c.385G>C (p.Ala129Pro) rs767567960
NM_001023570.4(IQCB1):c.394-3A>G
NM_001023570.4(IQCB1):c.410A>G (p.Glu137Gly)
NM_001023570.4(IQCB1):c.455T>G (p.Leu152Arg)
NM_001023570.4(IQCB1):c.461G>A (p.Gly154Glu) rs376120512
NM_001023570.4(IQCB1):c.479T>C (p.Ile160Thr)
NM_001023570.4(IQCB1):c.487+6A>G
NM_001023570.4(IQCB1):c.487G>A (p.Val163Ile)
NM_001023570.4(IQCB1):c.491T>C (p.Leu164Pro) rs746194022
NM_001023570.4(IQCB1):c.493C>G (p.Gln165Glu) rs781508757
NM_001023570.4(IQCB1):c.550G>A (p.Val184Ile)
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe) rs1412812453
NM_001023570.4(IQCB1):c.588-18T>A
NM_001023570.4(IQCB1):c.623A>G (p.Tyr208Cys)
NM_001023570.4(IQCB1):c.634G>C (p.Asp212His)
NM_001023570.4(IQCB1):c.635A>G (p.Asp212Gly)
NM_001023570.4(IQCB1):c.64G>C (p.Glu22Gln) rs1473351493
NM_001023570.4(IQCB1):c.65A>G (p.Glu22Gly)
NM_001023570.4(IQCB1):c.664C>T (p.Pro222Ser)
NM_001023570.4(IQCB1):c.688G>A (p.Ala230Thr)
NM_001023570.4(IQCB1):c.704T>A (p.Leu235Gln) rs1949315817
NM_001023570.4(IQCB1):c.772A>G (p.Arg258Gly) rs2108566176
NM_001023570.4(IQCB1):c.782T>A (p.Leu261Gln) rs199959360
NM_001023570.4(IQCB1):c.861G>T (p.Gln287His)
NM_001023570.4(IQCB1):c.871G>A (p.Glu291Lys) rs1030791636
NM_001023570.4(IQCB1):c.887A>G (p.Gln296Arg)
NM_001023570.4(IQCB1):c.895T>A (p.Cys299Ser) rs1949147133
NM_001023570.4(IQCB1):c.904C>A (p.Gln302Lys) rs756776335
NM_001023570.4(IQCB1):c.917A>C (p.Lys306Thr) rs1471637477
NM_001023570.4(IQCB1):c.927G>C (p.Gln309His) rs2108561479
NM_001023570.4(IQCB1):c.975G>T (p.Gln325His)

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