List of variants in gene combination LOC123956210, SLC26A4 reported as uncertain significance for 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)	rs142723249	0.00092
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser)	rs750834241	0.00005
NM_000441.2(SLC26A4):c.2119G>A (p.Gly707Arg)	rs372072732	0.00004
NM_000441.2(SLC26A4):c.2151A>C (p.Thr717=)	rs138361211	0.00004
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn)	rs994170964	0.00002
NM_000441.2(SLC26A4):c.2090A>C (p.Asp697Ala)	rs111033443
NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys)	rs147733656
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn)	rs145805875
NM_000441.2(SLC26A4):c.2132ACA[1] (p.Asn712del)	rs1554362748
NM_000441.2(SLC26A4):c.2135A>G (p.Asn712Ser)	rs772522003
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	rs397516427
NM_000441.2(SLC26A4):c.2161A>G (p.Thr721Ala)

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