ClinVar Miner

List of variants in gene IQCB1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 430
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HGVS dbSNP gnomAD frequency
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) rs4543051 0.64838
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995 0.25469
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
NM_001023570.4(IQCB1):c.-193T>C rs114555283 0.02852
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys) rs11920543 0.01165
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu) rs11926958 0.01125
NM_001023570.4(IQCB1):c.-178C>T rs191557781 0.00949
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00267
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_001023570.4(IQCB1):c.1703T>C (p.Leu568Pro) rs145400780 0.00143
NM_001023570.4(IQCB1):c.*218G>A rs552311575 0.00110
NM_001023570.4(IQCB1):c.560T>A (p.Met187Lys) rs146796158 0.00067
NM_001023570.4(IQCB1):c.393+15A>G rs369407077 0.00058
NM_001023570.4(IQCB1):c.877-11C>T rs192296154 0.00045
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360 0.00040
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) rs146580215 0.00036
NM_001023570.4(IQCB1):c.-147del rs886057829 0.00034
NM_001023570.4(IQCB1):c.-190C>T rs145282757 0.00032
NM_001023570.4(IQCB1):c.987-17C>T rs187649158 0.00029
NM_001023570.3(IQCB1):c.-215C>T rs541891117 0.00026
NM_001023570.4(IQCB1):c.*148T>C rs190963373 0.00026
NM_001023570.4(IQCB1):c.264-10C>T rs199800276 0.00025
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln) rs772153735 0.00015
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001023570.4(IQCB1):c.588-5A>G rs370451583 0.00015
NM_001023570.4(IQCB1):c.1281G>A (p.Ala427=) rs201319850 0.00011
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln) rs532987681 0.00010
NM_001023570.4(IQCB1):c.588-16T>A rs766712921 0.00010
NM_001023570.4(IQCB1):c.767-12A>G rs367899924 0.00010
NM_001023570.4(IQCB1):c.*151T>C rs1019317263 0.00009
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn) rs137890014 0.00009
NM_001023570.4(IQCB1):c.1130-11C>A rs373634080 0.00009
NM_001023570.4(IQCB1):c.1518C>T (p.His506=) rs552232586 0.00009
NM_001023570.4(IQCB1):c.543A>G (p.Gly181=) rs372658786 0.00009
NM_001023570.4(IQCB1):c.-12-4A>T rs760242984 0.00008
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.1335A>T (p.Arg445=) rs772003773 0.00007
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr) rs150073223 0.00007
NM_001023570.4(IQCB1):c.877-10G>A rs371057369 0.00007
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) rs727503968 0.00006
NM_001023570.4(IQCB1):c.1446C>A (p.Leu482=) rs146776796 0.00006
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) rs149259534 0.00006
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) rs373762948 0.00006
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.1551C>T (p.Asn517=) rs768494533 0.00005
NM_001023570.4(IQCB1):c.876+19A>G rs368053119 0.00005
NM_001023570.4(IQCB1):c.1093G>A (p.Glu365Lys) rs371844518 0.00004
NM_001023570.4(IQCB1):c.1129+13A>G rs371443898 0.00004
NM_001023570.4(IQCB1):c.1129+17A>G rs747623180 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.162T>C (p.Tyr54=) rs149152786 0.00004
NM_001023570.4(IQCB1):c.1657C>T (p.His553Tyr) rs766439338 0.00004
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) rs139299149 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.1050A>G (p.Leu350=) rs763014533 0.00003
NM_001023570.4(IQCB1):c.1191T>C (p.His397=) rs556134592 0.00003
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.587+11T>G rs571543000 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.714T>C (p.Ala238=) rs886057828 0.00003
NM_001023570.4(IQCB1):c.730A>G (p.Ile244Val) rs1040002145 0.00003
NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu) rs141949168 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.1368T>G (p.Val456=) rs773593065 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.288A>G (p.Pro96=) rs376703708 0.00002
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374 0.00002
NM_001023570.4(IQCB1):c.876+12C>T rs541723424 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.987-15C>G rs549731597 0.00002
NM_001023570.4(IQCB1):c.*160C>T rs1490063473 0.00001
NM_001023570.4(IQCB1):c.*327T>C rs777172993 0.00001
NM_001023570.4(IQCB1):c.*399A>G rs1466189762 0.00001
NM_001023570.4(IQCB1):c.-179G>A rs1449304531 0.00001
NM_001023570.4(IQCB1):c.101-9T>A rs753647177 0.00001
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
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.1269T>G (p.Leu423=) rs765566806 0.00001
NM_001023570.4(IQCB1):c.1278+9A>G rs774535665 0.00001
NM_001023570.4(IQCB1):c.1279-16A>G rs754160972 0.00001
NM_001023570.4(IQCB1):c.1287A>G (p.Lys429=) rs776326876 0.00001
NM_001023570.4(IQCB1):c.1295C>T (p.Ala432Val) rs150129899 0.00001
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter) rs867772426 0.00001
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=) rs886057824 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.1411-4C>T rs1220175972 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.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001023570.4(IQCB1):c.1470G>C (p.Leu490=) rs754875338 0.00001
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) rs1280238814 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.1568-10T>C rs762667783 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.1656C>G (p.Ala552=) rs1399676175 0.00001
NM_001023570.4(IQCB1):c.180A>G (p.Gln60=) rs1489496240 0.00001
NM_001023570.4(IQCB1):c.215G>A (p.Arg72Gln) rs777328728 0.00001
NM_001023570.4(IQCB1):c.252A>G (p.Thr84=) rs200461388 0.00001
NM_001023570.4(IQCB1):c.259T>C (p.Leu87=) rs750343777 0.00001
NM_001023570.4(IQCB1):c.263+18G>A rs201677425 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.31T>C (p.Leu11=) rs1413516964 0.00001
NM_001023570.4(IQCB1):c.369A>C (p.Gln123His) rs970350621 0.00001
NM_001023570.4(IQCB1):c.393+1G>C rs1226321871 0.00001
NM_001023570.4(IQCB1):c.446T>C (p.Leu149Pro) rs1949717977 0.00001
NM_001023570.4(IQCB1):c.488-1G>A rs779696701 0.00001
NM_001023570.4(IQCB1):c.488-7C>G rs748749379 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.588-2A>G rs1250919247 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.693A>G (p.Thr231=) rs750700698 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.776G>A (p.Arg259His) rs374034270 0.00001
NM_001023570.4(IQCB1):c.812del (p.Ser271fs) rs748559081 0.00001
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly) rs886057826 0.00001
NM_001023570.4(IQCB1):c.846C>T (p.Ser282=) rs943151135 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.877-17T>C rs778033432 0.00001
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val) rs756107852 0.00001
NM_001023570.4(IQCB1):c.894A>G (p.Ala298=) rs1216152770 0.00001
NM_001023570.4(IQCB1):c.90G>C (p.Leu30Phe) rs1246747991 0.00001
NM_001023570.4(IQCB1):c.930A>G (p.Thr310=) rs373066414 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
NM_001023570.4(IQCB1):c.986+14G>T rs1163027442 0.00001
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) rs1189889920 0.00001
NC_000003.11:g.(?_121489192)_(121489441_?)del
NC_000003.11:g.(?_121491404)_(121500721_?)dup
NC_000003.11:g.(?_121526171)_(121527876_?)del
NC_000003.11:g.(?_121547297)_(121547807_?)del
NC_000003.12:g.(?_121772557)_(121781874_?)del
NM_001023570.4(IQCB1):c.*197G>C rs1135750
NM_001023570.4(IQCB1):c.*226T>C rs886057822
NM_001023570.4(IQCB1):c.-147_-142del rs72421117
NM_001023570.4(IQCB1):c.-154T>G rs886057830
NM_001023570.4(IQCB1):c.-185C>G rs553719849
NM_001023570.4(IQCB1):c.100+1G>A
NM_001023570.4(IQCB1):c.1000A>G (p.Lys334Glu) rs532987681
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)
NM_001023570.4(IQCB1):c.101-13C>T
NM_001023570.4(IQCB1):c.101-14T>G rs200820580
NM_001023570.4(IQCB1):c.101-18T>G rs2108643441
NM_001023570.4(IQCB1):c.101-1G>A rs1372024420
NM_001023570.4(IQCB1):c.101-1G>T
NM_001023570.4(IQCB1):c.101-4T>G rs1950533086
NM_001023570.4(IQCB1):c.101-6C>T
NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter)
NM_001023570.4(IQCB1):c.1045_1048delinsGGGGG (p.Lys349fs)
NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)
NM_001023570.4(IQCB1):c.1054T>C (p.Leu352=) rs2108548136
NM_001023570.4(IQCB1):c.1056del (p.Leu352fs)
NM_001023570.4(IQCB1):c.1059A>G (p.Gln353=)
NM_001023570.4(IQCB1):c.1069C>G (p.Gln357Glu)
NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter) rs121918245
NM_001023570.4(IQCB1):c.1075G>T (p.Ala359Ser)
NM_001023570.4(IQCB1):c.1098G>A (p.Leu366=)
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs) rs1576559094
NM_001023570.4(IQCB1):c.1125T>G (p.His375Gln)
NM_001023570.4(IQCB1):c.1130-14dup rs1559763497
NM_001023570.4(IQCB1):c.1130-19G>C
NM_001023570.4(IQCB1):c.1130-20A>G
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met) rs886057825
NM_001023570.4(IQCB1):c.115A>C (p.Thr39Pro)
NM_001023570.4(IQCB1):c.115A>G (p.Thr39Ala)
NM_001023570.4(IQCB1):c.1167A>G (p.Lys389=) rs773702869
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.1194G>A (p.Trp398Ter) rs1948821736
NM_001023570.4(IQCB1):c.1206G>A (p.Arg402=) rs2108543655
NM_001023570.4(IQCB1):c.1210A>C (p.Arg404=) rs1354344876
NM_001023570.4(IQCB1):c.1210A>G (p.Arg404Gly) rs1354344876
NM_001023570.4(IQCB1):c.1212G>A (p.Arg404=) rs2108543616
NM_001023570.4(IQCB1):c.1215A>G (p.Lys405=) rs1264884946
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.126A>G (p.Gly42=) rs2108643287
NM_001023570.4(IQCB1):c.1274G>A (p.Arg425Lys) rs1450149889
NM_001023570.4(IQCB1):c.1278+12G>A rs2108543099
NM_001023570.4(IQCB1):c.1278+7C>T rs112780863
NM_001023570.4(IQCB1):c.1279-10_1279-8del
NM_001023570.4(IQCB1):c.1279-14T>G
NM_001023570.4(IQCB1):c.1279-15T>A
NM_001023570.4(IQCB1):c.1279-17A>C
NM_001023570.4(IQCB1):c.1279-8del rs758519096
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.1296G>A (p.Ala432=) rs761109901
NM_001023570.4(IQCB1):c.1296G>T (p.Ala432=) rs761109901
NM_001023570.4(IQCB1):c.1314_1315delinsCT (p.Lys438_Lys439delinsAsnTer)
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro) rs749515337
NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter)
NM_001023570.4(IQCB1):c.1360C>T (p.Arg454Cys)
NM_001023570.4(IQCB1):c.1363C>A (p.Arg455=) rs866982675
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.4(IQCB1):c.1369G>C (p.Glu457Gln)
NM_001023570.4(IQCB1):c.1371A>G (p.Glu457=)
NM_001023570.4(IQCB1):c.137T>A (p.Leu46Ter) rs2108643223
NM_001023570.4(IQCB1):c.1399A>G (p.Arg467Gly)
NM_001023570.4(IQCB1):c.139A>G (p.Lys47Glu)
NM_001023570.4(IQCB1):c.1410+13T>C
NM_001023570.4(IQCB1):c.1410+18C>T rs886038375
NM_001023570.4(IQCB1):c.1410+19A>G
NM_001023570.4(IQCB1):c.1410+74AT[4] rs1553709033
NM_001023570.4(IQCB1):c.1410+81GT[17] rs57816005
NM_001023570.4(IQCB1):c.1411-12C>G
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.1443G>A (p.Glu481=)
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr) rs776788131
NM_001023570.4(IQCB1):c.1465C>A (p.Arg489=)
NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter)
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.1496del (p.Leu499fs)
NM_001023570.4(IQCB1):c.1498G>A (p.Glu500Lys)
NM_001023570.4(IQCB1):c.1499A>G (p.Glu500Gly)
NM_001023570.4(IQCB1):c.150A>G (p.Lys50=)
NM_001023570.4(IQCB1):c.150_153del (p.Gln51fs)
NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter)
NM_001023570.4(IQCB1):c.1516C>A (p.His506Asn) rs2108507224
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
NM_001023570.4(IQCB1):c.153A>C (p.Gln51His) rs773874600
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile) rs886057823
NM_001023570.4(IQCB1):c.1549A>G (p.Asn517Asp) rs139468837
NM_001023570.4(IQCB1):c.1557dup (p.Gln520fs)
NM_001023570.4(IQCB1):c.1563A>G (p.Leu521=)
NM_001023570.4(IQCB1):c.1567+10C>G
NM_001023570.4(IQCB1):c.1567+17C>T
NM_001023570.4(IQCB1):c.1567+20T>C
NM_001023570.4(IQCB1):c.1567+2_*2del
NM_001023570.4(IQCB1):c.1567+4T>C
NM_001023570.4(IQCB1):c.1568-11G>A
NM_001023570.4(IQCB1):c.1568-13C>T
NM_001023570.4(IQCB1):c.1568-19T>A
NM_001023570.4(IQCB1):c.1568-19del rs148949254
NM_001023570.4(IQCB1):c.1568-6C>T
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.1595G>A (p.Gly532Glu) rs200719828
NM_001023570.4(IQCB1):c.1602del (p.Glu534fs)
NM_001023570.4(IQCB1):c.1605T>C (p.Pro535=)
NM_001023570.4(IQCB1):c.1608G>A (p.Glu536=) rs1947928282
NM_001023570.4(IQCB1):c.1647C>G (p.Ala549=)
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.1689C>T (p.Pro563=) rs1947922675
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr) rs1950530790
NM_001023570.4(IQCB1):c.16A>G (p.Thr6Ala) rs749733618
NM_001023570.4(IQCB1):c.1706G>C (p.Gly569Ala)
NM_001023570.4(IQCB1):c.1707A>T (p.Gly569=)
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.1739A>C (p.Lys580Thr) rs199775360
NM_001023570.4(IQCB1):c.1746G>A (p.Glu582=) rs1215687445
NM_001023570.4(IQCB1):c.1752T>C (p.Ser584=)
NM_001023570.4(IQCB1):c.1769T>G (p.Leu590Ter) rs1947917811
NM_001023570.4(IQCB1):c.178C>T (p.Gln60Ter) rs776023179
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly) rs201405662
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) rs1553722736
NM_001023570.4(IQCB1):c.263+1G>T
NM_001023570.4(IQCB1):c.264-17T>C rs569996040
NM_001023570.4(IQCB1):c.264-18C>A
NM_001023570.4(IQCB1):c.264-20A>C rs772081031
NM_001023570.4(IQCB1):c.264-2A>T rs727503969
NM_001023570.4(IQCB1):c.264-3C>T rs1950460725
NM_001023570.4(IQCB1):c.264-5T>A
NM_001023570.4(IQCB1):c.264-8T>C
NM_001023570.4(IQCB1):c.273dup (p.Val92fs) rs1201853761
NM_001023570.4(IQCB1):c.280T>C (p.Leu94=) rs2108637684
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.30C>A (p.Ile10=) rs745953463
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.333del (p.Ala112fs) rs786200929
NM_001023570.4(IQCB1):c.340A>C (p.Asn114His) rs2108637450
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) rs1372460709
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.387A>C (p.Ala129=)
NM_001023570.4(IQCB1):c.392A>G (p.Lys131Arg) rs1576616726
NM_001023570.4(IQCB1):c.393+15A>C
NM_001023570.4(IQCB1):c.393+8T>A
NM_001023570.4(IQCB1):c.394-15_394-10dup rs768572151
NM_001023570.4(IQCB1):c.394-1G>A
NM_001023570.4(IQCB1):c.394-3A>G
NM_001023570.4(IQCB1):c.410A>G (p.Glu137Gly)
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter) rs2108595322
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.445_448del (p.Leu149fs) rs1156803164
NM_001023570.4(IQCB1):c.447C>T (p.Leu149=) rs906059556
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.481C>T (p.Gln161Ter)
NM_001023570.4(IQCB1):c.487+17T>C
NM_001023570.4(IQCB1):c.487+19A>G rs752104367
NM_001023570.4(IQCB1):c.487+6A>G
NM_001023570.4(IQCB1):c.487+9A>T
NM_001023570.4(IQCB1):c.487G>A (p.Val163Ile)
NM_001023570.4(IQCB1):c.488-13del rs753164790
NM_001023570.4(IQCB1):c.488-13dup rs753164790
NM_001023570.4(IQCB1):c.488-22_488-19del
NM_001023570.4(IQCB1):c.488-2A>G
NM_001023570.4(IQCB1):c.488-5T>G
NM_001023570.4(IQCB1):c.490C>T (p.Leu164=)
NM_001023570.4(IQCB1):c.490del (p.Leu164fs) rs2108591614
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.493C>T (p.Gln165Ter)
NM_001023570.4(IQCB1):c.549A>C (p.Ala183=)
NM_001023570.4(IQCB1):c.550G>A (p.Val184Ile)
NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe) rs1412812453
NM_001023570.4(IQCB1):c.588-16del rs574290389
NM_001023570.4(IQCB1):c.588-18T>A
NM_001023570.4(IQCB1):c.588-25dup rs574290389
NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter) rs2108571563
NM_001023570.4(IQCB1):c.623A>G (p.Tyr208Cys)
NM_001023570.4(IQCB1):c.628dup (p.Ile210fs)
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.705G>A (p.Leu235=)
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg) rs886057827
NM_001023570.4(IQCB1):c.729_754del (p.Glu243fs) rs773848660
NM_001023570.4(IQCB1):c.757del (p.Cys253fs) rs1949313357
NM_001023570.4(IQCB1):c.758del (p.Cys253fs) rs770441610
NM_001023570.4(IQCB1):c.759C>A (p.Cys253Ter)
NM_001023570.4(IQCB1):c.75C>G (p.Val25=)
NM_001023570.4(IQCB1):c.766+19_766+22del
NM_001023570.4(IQCB1):c.767-11T>C
NM_001023570.4(IQCB1):c.767-2A>G rs2108566215
NM_001023570.4(IQCB1):c.767-9C>T
NM_001023570.4(IQCB1):c.772A>G (p.Arg258Gly) rs2108566176
NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys) rs778777181
NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer)
NM_001023570.4(IQCB1):c.782T>A (p.Leu261Gln) rs199959360
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro) rs1949231887
NM_001023570.4(IQCB1):c.804T>G (p.Thr268=) rs765859616
NM_001023570.4(IQCB1):c.823dup (p.Arg275fs)
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs) rs1474058708
NM_001023570.4(IQCB1):c.861G>T (p.Gln287His)
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) rs1949225959
NM_001023570.4(IQCB1):c.864A>G (p.Glu288=)
NM_001023570.4(IQCB1):c.871G>A (p.Glu291Lys) rs1030791636
NM_001023570.4(IQCB1):c.876+12dup
NM_001023570.4(IQCB1):c.876+16A>T
NM_001023570.4(IQCB1):c.876+18_876+24del
NM_001023570.4(IQCB1):c.887A>G (p.Gln296Arg)
NM_001023570.4(IQCB1):c.895T>A (p.Cys299Ser) rs1949147133
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
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.919_920insC (p.Gly307fs) rs772827691
NM_001023570.4(IQCB1):c.927G>C (p.Gln309His) rs2108561479
NM_001023570.4(IQCB1):c.948G>A (p.Lys316=)
NM_001023570.4(IQCB1):c.96A>G (p.Leu32=)
NM_001023570.4(IQCB1):c.975G>T (p.Gln325His)
NM_001023570.4(IQCB1):c.983dup (p.Arg329fs) rs1949141890
NM_001023570.4(IQCB1):c.986+20G>A
NM_001023570.4(IQCB1):c.986+9del

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