List of variants in gene SLC26A4 reported as pathogenic by Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center

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.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	0.00004
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)	rs763006761	0.00002
NM_000441.2(SLC26A4):c.1614+1G>A	rs111033312	0.00001
NM_000441.2(SLC26A4):c.1707+5G>A	rs192366176	0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	rs200455203	0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)	rs749013429	0.00001
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)	rs121908364
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	rs201562855
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)	rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)	rs786204739
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)	rs1554360678
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu)	rs1399914687
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)	rs1057517303
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser)	rs1554352676
NM_000441.2(SLC26A4):c.601-1G>A	rs1554355011
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly)	rs1554352234

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