List of variants in gene SLC12A2 reported as pathogenic for Kilquist syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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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
NM_001046.3(SLC12A2):c.2617-2A>G
Single allele

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