ClinVar Miner

List of variants reported as pathogenic for Senior-Loken syndrome 5 by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	rs387907009	0.00001
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)	rs398123538
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)	rs750962965

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