ClinVar Miner

List of variants reported as pathogenic for Senior-Loken syndrome 7 by Genetic Services Laboratory, University of Chicago

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)	rs797045947	0.00001
NM_006642.5(SDCCAG8):c.221-2A>G	rs797045946
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)	rs797045948

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