ClinVar Miner

List of variants in gene IQCB1 studied for Renal dysplasia and retinal aplasia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001023570.4(IQCB1):c.-147del rs886057829 0.00034
NM_001023570.3(IQCB1):c.-215C>T rs541891117 0.00026
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=) rs886057824 0.00001
NM_001023570.4(IQCB1):c.-147_-142del rs72421117
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs) rs1576559094
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.4(IQCB1):c.488-13dup rs753164790

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