ClinVar Miner

List of variants studied for Senior-Loken syndrome 5 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 4
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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.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001023570.4(IQCB1):c.488-1G>A rs779696701 0.00001
NM_001023570.4(IQCB1):c.1540dup (p.Ile514fs)

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