List of variants in gene SLC12A2 reported as likely benign for Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001046.3(SLC12A2):c.2322A>C (p.Ser774=)	rs115357531	0.00153
NM_001046.3(SLC12A2):c.3468A>G (p.Leu1156=)	rs115092488	0.00098
NM_001046.3(SLC12A2):c.876+17_876+18del	rs556046317	0.00094
NM_001046.3(SLC12A2):c.2748A>T (p.Gly916=)	rs141683516	0.00080
NM_001046.3(SLC12A2):c.3100+13A>T	rs199929591	0.00066
NM_001046.3(SLC12A2):c.495C>T (p.Asp165=)	rs138234695	0.00051
NM_001046.3(SLC12A2):c.953-7C>T	rs201608609	0.00044
NM_001046.3(SLC12A2):c.1941A>G (p.Lys647=)	rs190573592	0.00030
NM_001046.3(SLC12A2):c.2493C>A (p.Ala831=)	rs138341229	0.00026
NM_001046.3(SLC12A2):c.2511C>T (p.Ile837=)	rs1053614	0.00019
NM_001046.3(SLC12A2):c.1128C>T (p.Asn376=)	rs371700719	0.00016
NM_001046.3(SLC12A2):c.1773+15T>C	rs199958255	0.00012
NM_001046.3(SLC12A2):c.877-16C>G	rs530956302	0.00008
NM_001046.3(SLC12A2):c.3100+20T>A	rs776147551	0.00003
NM_001046.3(SLC12A2):c.2475+11A>G	rs763550873	0.00002
NM_001046.3(SLC12A2):c.2107+11A>G	rs189093520

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