List of variants in gene SLC26A4 reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 4; Pendred 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: 13

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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.1708G>A (p.Val570Ile)	rs397516421	0.00006
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	rs111033242	0.00005
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	rs542620119	0.00003
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)	rs111033454	0.00001
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	rs146281367
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)	rs111033305
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)	rs111033306
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	rs768471577
NM_000441.2(SLC26A4):c.1544+5G>A	rs1057521147
NM_000441.2(SLC26A4):c.1707+2T>C	rs1554360707
NM_000441.2(SLC26A4):c.1708-1G>T	rs759414956
NM_000441.2(SLC26A4):c.626G>A (p.Gly209Glu)

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