ClinVar Miner

List of variants studied for Senior-Loken syndrome 5 by Illumina Laboratory Services, Illumina

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Total variants: 47
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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.-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.*218G>A rs552311575 0.00110
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.-190C>T rs145282757 0.00032
NM_001023570.4(IQCB1):c.*148T>C rs190963373 0.00026
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001023570.4(IQCB1):c.*151T>C rs1019317263 0.00009
NM_001023570.4(IQCB1):c.-12-4A>T rs760242984 0.00008
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.1129+13A>G rs371443898 0.00004
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) rs778777318 0.00004
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) rs139299149 0.00004
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) rs376700204 0.00004
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) rs886057828 0.00003
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) rs147708058 0.00002
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374 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.1150C>T (p.Arg384Trp) rs760548277 0.00001
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=) rs1399676175 0.00001
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly) rs886057826 0.00001
NM_001023570.4(IQCB1):c.*197G>C rs1135750
NM_001023570.4(IQCB1):c.*226T>C rs886057822
NM_001023570.4(IQCB1):c.-154T>G rs886057830
NM_001023570.4(IQCB1):c.-185C>G rs553719849
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met) rs886057825
NM_001023570.4(IQCB1):c.1278+7C>T rs112780863
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile) rs886057823
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu) rs200719828
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr) rs1950530790
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr) rs199775360
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) rs1372460709
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg) rs886057827
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro) rs1949231887

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