ClinVar Miner

List of variants in gene SLC26A4 reported as likely pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?))
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs) rs111033317
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257
NM_000441.2(SLC26A4):c.1707+6T>C rs727505230
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.2(SLC26A4):c.397_398delinsA (p.Ser133fs) rs111033400
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.918+1G>T rs111033245

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