ClinVar Miner

List of variants reported as uncertain significance for Pendred syndrome by Natera, Inc.

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005 0.00029
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000441.2(SLC26A4):c.2089+9A>G rs369504960 0.00016
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) rs368844392 0.00008
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.2242C>G (p.Leu748Val) rs727504813 0.00005
NM_000441.2(SLC26A4):c.2151A>C (p.Thr717=) rs138361211 0.00004
NM_000441.2(SLC26A4):c.463A>G (p.Met155Val) rs201931861 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000441.2(SLC26A4):c.1996T>A (p.Ser666Thr) rs397516425 0.00003
NM_000441.2(SLC26A4):c.2292G>A (p.Thr764=) rs139556627 0.00003
NM_000441.2(SLC26A4):c.871C>T (p.Arg291Trp) rs775610413 0.00003
NM_000441.2(SLC26A4):c.1047G>A (p.Met349Ile) rs180671153 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.1054G>A (p.Ala352Thr) rs397516412 0.00001
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213 0.00001
NM_000441.2(SLC26A4):c.1696A>G (p.Ile566Val) rs1300878615 0.00001
NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro) rs397516422 0.00001
NM_000441.2(SLC26A4):c.187G>A (p.Gly63Ser) rs997848557 0.00001
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) rs375645779 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.2070G>A (p.Val690=) rs374686650 0.00001
NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser) rs1057517303 0.00001
NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val) rs759268252 0.00001
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365 0.00001
NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val) rs761613436 0.00001
NM_000441.2(SLC26A4):c.1264-4C>T rs1488973035
NM_000441.2(SLC26A4):c.1920G>C (p.Trp640Cys) rs368119540
NM_000441.2(SLC26A4):c.1957G>C (p.Val653Leu) rs1554361014
NM_000441.2(SLC26A4):c.1969A>T (p.Ser657Cys) rs876658003
NM_000441.2(SLC26A4):c.2089+3A>G rs753682653
NM_000441.2(SLC26A4):c.2090A>C (p.Asp697Ala) rs111033443
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) rs145805875
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2272_2273insCTT (p.Glu757_Leu758insSer) rs767671344
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000441.2(SLC26A4):c.475G>A (p.Glu159Lys) rs1562823659
NM_000441.2(SLC26A4):c.977G>C (p.Gly326Ala) rs1791312931

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