ClinVar Miner

List of variants in gene IQCB1 reported as pathogenic for ciliopathy

Included ClinVar conditions (273):
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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) rs727503968 0.00006
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter) rs867772426 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) rs1280238814 0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001023570.4(IQCB1):c.488-1G>A rs779696701 0.00001
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) rs1189889920 0.00001
NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter) rs121918245
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs) rs1576559094
NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter)
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.333del (p.Ala112fs) rs786200929
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.758del (p.Cys253fs) rs770441610
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs) rs1474058708
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs) rs772827691

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