List of variants in gene SLC26A4 reported as likely pathogenic for Rare genetic deafness

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	rs145254330	0.00017
NM_000441.2(SLC26A4):c.-4+5G>A	rs727503425	0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)	rs111033316	0.00006
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	rs111033242	0.00005
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)	rs1293971731	0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)	rs111033257	0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)	rs397516424	0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)	rs111033454	0.00001
NM_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?))
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)	rs397516414
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)	rs111033305
NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs)	rs111033317
NM_000441.2(SLC26A4):c.1707+6T>C	rs727505230
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter)	rs111033200
NM_000441.2(SLC26A4):c.397_398delinsA (p.Ser133fs)	rs111033400
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)	rs111033380
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)	rs111033205
NM_000441.2(SLC26A4):c.918+1G>T	rs111033245

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