ClinVar Miner

List of variants in gene SLC26A4 reported as uncertain significance by GeneDx

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr) rs114473792 0.00116
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005 0.00029
NC_000007.14:g.107660808G>A rs895608913 0.00017
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00010
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) rs368844392 0.00008
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met) rs781300835 0.00005
NM_000441.2(SLC26A4):c.463A>G (p.Met155Val) rs201931861 0.00004
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.1047G>A (p.Met349Ile) rs180671153 0.00002
NM_000441.2(SLC26A4):c.1751C>T (p.Ala584Val) rs749479853 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.803A>G (p.Asn268Ser) rs200431470 0.00002
NM_000441.2(SLC26A4):c.1344G>A (p.Ser448=) rs768687579 0.00001
NM_000441.2(SLC26A4):c.1445G>C (p.Trp482Ser) rs774182356 0.00001
NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr) rs751744677 0.00001
NM_000441.2(SLC26A4):c.1709T>C (p.Val570Ala) rs775256637 0.00001
NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser) rs1057517303 0.00001
NM_000441.2(SLC26A4):c.2235G>A (p.Thr745=) rs748353957 0.00001
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874 0.00001
NM_000441.2(SLC26A4):c.401G>T (p.Arg134Ile) rs1790889845 0.00001
NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val) rs759268252 0.00001
NM_000441.2(SLC26A4):c.416-12T>A rs751972640 0.00001
NM_000441.2(SLC26A4):c.65T>C (p.Val22Ala) rs1790557992 0.00001
NM_000441.2(SLC26A4):c.765+5G>A rs947864801 0.00001
NM_000441.2(SLC26A4):c.1000G>T (p.Gly334Trp)
NM_000441.2(SLC26A4):c.1036T>A (p.Phe346Ile) rs1269617308
NM_000441.2(SLC26A4):c.1072G>A (p.Val358Met)
NM_000441.2(SLC26A4):c.1121A>G (p.Lys374Arg)
NM_000441.2(SLC26A4):c.1320G>T (p.Lys440Asn)
NM_000441.2(SLC26A4):c.1321C>T (p.Leu441Phe)
NM_000441.2(SLC26A4):c.1528G>T (p.Val510Phe) rs2129317161
NM_000441.2(SLC26A4):c.154A>G (p.Lys52Glu)
NM_000441.2(SLC26A4):c.1617T>G (p.Ile539Met) rs1276433236
NM_000441.2(SLC26A4):c.1618G>A (p.Glu540Lys)
NM_000441.2(SLC26A4):c.1624C>A (p.Pro542Thr)
NM_000441.2(SLC26A4):c.181G>T (p.Ala61Ser) rs139623905
NM_000441.2(SLC26A4):c.1957G>C (p.Val653Leu) rs1554361014
NM_000441.2(SLC26A4):c.1971C>A (p.Ser657Arg) rs1336642579
NM_000441.2(SLC26A4):c.1979T>C (p.Leu660Pro) rs2129318274
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser) rs121908360
NM_000441.2(SLC26A4):c.2089+3A>G rs753682653
NM_000441.2(SLC26A4):c.2089+4A>G rs778518135
NM_000441.2(SLC26A4):c.2272_2273insCTT (p.Glu757_Leu758insSer) rs767671344
NM_000441.2(SLC26A4):c.2323A>G (p.Met775Val)
NM_000441.2(SLC26A4):c.2335G>C (p.Ala779Pro)
NM_000441.2(SLC26A4):c.25G>A (p.Glu9Lys)
NM_000441.2(SLC26A4):c.290T>C (p.Val97Ala)
NM_000441.2(SLC26A4):c.424C>T (p.Pro142Ser) rs749325776
NM_000441.2(SLC26A4):c.454G>A (p.Val152Ile)
NM_000441.2(SLC26A4):c.527T>C (p.Ile176Thr)
NM_000441.2(SLC26A4):c.637A>T (p.Arg213Trp)
NM_000441.2(SLC26A4):c.664G>T (p.Gly222Cys)
NM_000441.2(SLC26A4):c.732C>G (p.Thr244=) rs2129311968
NM_000441.2(SLC26A4):c.895C>T (p.Pro299Ser) rs2129314504

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