ClinVar Miner

List of variants in gene IQCB1 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
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.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_001023570.4(IQCB1):c.1703T>C (p.Leu568Pro) rs145400780 0.00143
NM_001023570.4(IQCB1):c.393+15A>G rs369407077 0.00058
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360 0.00040
NM_001023570.4(IQCB1):c.987-17C>T rs187649158 0.00029
NM_001023570.4(IQCB1):c.264-10C>T rs199800276 0.00025
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001023570.4(IQCB1):c.1281G>A (p.Ala427=) rs201319850 0.00011
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.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.1335A>T (p.Arg445=) rs772003773 0.00007
NM_001023570.4(IQCB1):c.877-10G>A rs371057369 0.00007
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.1551C>T (p.Asn517=) rs768494533 0.00005
NM_001023570.4(IQCB1):c.876+19A>G rs368053119 0.00005
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.162T>C (p.Tyr54=) rs149152786 0.00004
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) rs139299149 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.587+11T>G rs571543000 0.00003
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) rs886057828 0.00003
NM_001023570.4(IQCB1):c.1368T>G (p.Val456=) rs773593065 0.00002
NM_001023570.4(IQCB1):c.288A>G (p.Pro96=) rs376703708 0.00002
NM_001023570.4(IQCB1):c.876+12C>T rs541723424 0.00002
NM_001023570.4(IQCB1):c.987-15C>G rs549731597 0.00002
NM_001023570.4(IQCB1):c.101-9T>A rs753647177 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.1287A>G (p.Lys429=) rs776326876 0.00001
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=) rs886057824 0.00001
NM_001023570.4(IQCB1):c.1411-4C>T rs1220175972 0.00001
NM_001023570.4(IQCB1):c.1470G>C (p.Leu490=) rs754875338 0.00001
NM_001023570.4(IQCB1):c.1568-10T>C rs762667783 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.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.31T>C (p.Leu11=) rs1413516964 0.00001
NM_001023570.4(IQCB1):c.488-7C>G rs748749379 0.00001
NM_001023570.4(IQCB1):c.693A>G (p.Thr231=) rs750700698 0.00001
NM_001023570.4(IQCB1):c.846C>T (p.Ser282=) rs943151135 0.00001
NM_001023570.4(IQCB1):c.877-17T>C rs778033432 0.00001
NM_001023570.4(IQCB1):c.894A>G (p.Ala298=) rs1216152770 0.00001
NM_001023570.4(IQCB1):c.930A>G (p.Thr310=) rs373066414 0.00001
NM_001023570.4(IQCB1):c.986+14G>T rs1163027442 0.00001
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.101-4T>G rs1950533086
NM_001023570.4(IQCB1):c.101-6C>T
NM_001023570.4(IQCB1):c.1054T>C (p.Leu352=) rs2108548136
NM_001023570.4(IQCB1):c.1059A>G (p.Gln353=)
NM_001023570.4(IQCB1):c.1098G>A (p.Leu366=)
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.1167A>G (p.Lys389=) rs773702869
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.1212G>A (p.Arg404=) rs2108543616
NM_001023570.4(IQCB1):c.1215A>G (p.Lys405=) rs1264884946
NM_001023570.4(IQCB1):c.126A>G (p.Gly42=) rs2108643287
NM_001023570.4(IQCB1):c.1278+12G>A rs2108543099
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.1296G>A (p.Ala432=) rs761109901
NM_001023570.4(IQCB1):c.1296G>T (p.Ala432=) rs761109901
NM_001023570.4(IQCB1):c.1371A>G (p.Glu457=)
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.1411-12C>G
NM_001023570.4(IQCB1):c.1443G>A (p.Glu481=)
NM_001023570.4(IQCB1):c.1465C>A (p.Arg489=)
NM_001023570.4(IQCB1):c.150A>G (p.Lys50=)
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.1568-11G>A
NM_001023570.4(IQCB1):c.1568-13C>T
NM_001023570.4(IQCB1):c.1568-19T>A
NM_001023570.4(IQCB1):c.1568-6C>T
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.1689C>T (p.Pro563=) rs1947922675
NM_001023570.4(IQCB1):c.1707A>T (p.Gly569=)
NM_001023570.4(IQCB1):c.1746G>A (p.Glu582=) rs1215687445
NM_001023570.4(IQCB1):c.1752T>C (p.Ser584=)
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.264-5T>A
NM_001023570.4(IQCB1):c.264-8T>C
NM_001023570.4(IQCB1):c.280T>C (p.Leu94=) rs2108637684
NM_001023570.4(IQCB1):c.30C>A (p.Ile10=) rs745953463
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.447C>T (p.Leu149=) rs906059556
NM_001023570.4(IQCB1):c.487+17T>C
NM_001023570.4(IQCB1):c.487+19A>G rs752104367
NM_001023570.4(IQCB1):c.487+9A>T
NM_001023570.4(IQCB1):c.488-22_488-19del
NM_001023570.4(IQCB1):c.488-5T>G
NM_001023570.4(IQCB1):c.490C>T (p.Leu164=)
NM_001023570.4(IQCB1):c.549A>C (p.Ala183=)
NM_001023570.4(IQCB1):c.588-25dup rs574290389
NM_001023570.4(IQCB1):c.705G>A (p.Leu235=)
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.767-9C>T
NM_001023570.4(IQCB1):c.804T>G (p.Thr268=) rs765859616
NM_001023570.4(IQCB1):c.864A>G (p.Glu288=)
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.948G>A (p.Lys316=)
NM_001023570.4(IQCB1):c.96A>G (p.Leu32=)
NM_001023570.4(IQCB1):c.986+20G>A

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