ClinVar Miner

List of variants in gene IQCB1 reported as pathogenic for Senior-Loken syndrome 5

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Total variants: 12
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HGVS dbSNP
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009
NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter) rs121918245
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351
NM_001023570.4(IQCB1):c.1516_1517CA[1] (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.1520_1521GA[3] (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.333del (p.Ala112fs) rs786200929
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.443_444CT[1] (p.Leu149fs) rs1156803164
NM_001023570.4(IQCB1):c.488-1G>A rs779696701
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs) rs1474058708
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459

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