ClinVar Miner

List of variants studied for Pendred syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425
NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) rs769666695
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886

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