List of variants in gene combination LOC123956210, SLC26A4 reported as pathogenic for autosomal recessive disease

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)	rs1421964916	0.00005
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	rs121908363	0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)	rs757820624	0.00003
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)	rs1045933779	0.00001
NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs)	rs1554362735
NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val)	rs2129319905
NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro)	rs1584344549
NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter)
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)	rs142656144
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)	rs786204523
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	rs397516427
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)	rs1417146153
NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter)	rs1584344687
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)	rs1792142540

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