ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_001023570.4(IQCB1):c.*197G>C rs1135750
NM_001023570.4(IQCB1):c.-193T>C rs114555283
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys) rs11920543
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His)
NM_001023570.4(IQCB1):c.1410+74AT[4] rs1553709033
NM_001023570.4(IQCB1):c.1410+81GT[17] rs57816005
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) rs4543051

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