ClinVar Miner

List of variants reported as pathogenic for Kilquist syndrome by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_000005.9:g.127441491_127471419delinsATGAAAAGCTTTACAGAAGTTGGAATTAAAAAAA
NM_001046.3(SLC12A2):c.1431del (p.Phe477fs)	rs1762258987
NM_001046.3(SLC12A2):c.2006-1G>A	rs1762648450

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