ClinVar Miner

List of variants in gene IQCB1 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 6
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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.1632_1638dup (p.Ala547fs) rs767295178 0.00003
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) rs1189889920 0.00001
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459

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