List of variants in gene SLC26A4 reported as likely pathogenic by University of Washington Center for Mendelian Genomics, University of Washington

Minimum submission review status:		Collection method:
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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_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	rs111033220	0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256	0.00005
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)	rs142498437	0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)	rs1562822565	0.00001
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	rs146281367
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	rs397516413
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)	rs111033305
NM_000441.2(SLC26A4):c.1264-3C>G	rs1562835391
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	rs768471577
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)	rs1562817529
NM_000441.2(SLC26A4):c.413T>A (p.Val138Asp)	rs1790890770
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)	rs756272252
NM_000441.2(SLC26A4):c.42del (p.Glu15fs)	rs1562817224
NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)	rs1349370504

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