ClinVar Miner

List of variants studied for Senior-Loken syndrome 5 by Undiagnosed Diseases Network, NIH

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)	rs373909351	0.00001
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)	rs398123538

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