List of variants reported as uncertain significance for Senior-Loken syndrome 5 by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
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.*151T>C	rs1019317263	0.00009
NM_001023570.4(IQCB1):c.-12-4A>T	rs760242984	0.00008
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.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.*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.722A>G (p.His241Arg)	rs886057827
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro)	rs1949231887

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