ClinVar Miner

List of variants in gene SLC29A3 reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP
NC_000010.10:g.(?_73079047)_(73082831_?)dup
NM_018344.6(SLC29A3):c.*111A>G
NM_018344.6(SLC29A3):c.*11A>C rs776790087
NM_018344.6(SLC29A3):c.*220A>G
NM_018344.6(SLC29A3):c.*318C>T rs527551448
NM_018344.6(SLC29A3):c.*321C>G
NM_018344.6(SLC29A3):c.*353C>A rs886047117
NM_018344.6(SLC29A3):c.*379A>G
NM_018344.6(SLC29A3):c.*403C>T rs376297355
NM_018344.6(SLC29A3):c.*485G>A rs886047118
NM_018344.6(SLC29A3):c.*557A>C rs886047119
NM_018344.6(SLC29A3):c.*603A>G rs886047120
NM_018344.6(SLC29A3):c.*657dup rs564371527
NM_018344.6(SLC29A3):c.*744G>A
NM_018344.6(SLC29A3):c.-23C>T rs771479944
NM_018344.6(SLC29A3):c.-31G>C rs886047116
NM_018344.6(SLC29A3):c.1010C>T (p.Ser337Leu) rs200249218
NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=)
NM_018344.6(SLC29A3):c.104T>G (p.Leu35Arg) rs531482844
NM_018344.6(SLC29A3):c.1061T>C (p.Leu354Pro)
NM_018344.6(SLC29A3):c.1121C>T (p.Pro374Leu)
NM_018344.6(SLC29A3):c.1124A>G (p.Asn375Ser)
NM_018344.6(SLC29A3):c.112C>T (p.Arg38Cys)
NM_018344.6(SLC29A3):c.1133C>T (p.Ala378Val)
NM_018344.6(SLC29A3):c.1135C>G (p.Leu379Val)
NM_018344.6(SLC29A3):c.1135C>T (p.Leu379Phe)
NM_018344.6(SLC29A3):c.113G>A (p.Arg38His)
NM_018344.6(SLC29A3):c.1142G>C (p.Gly381Ala)
NM_018344.6(SLC29A3):c.1147G>A (p.Val383Met) rs200001297
NM_018344.6(SLC29A3):c.1147G>C (p.Val383Leu)
NM_018344.6(SLC29A3):c.116C>T (p.Pro39Leu)
NM_018344.6(SLC29A3):c.1180G>A (p.Val394Met) rs770560831
NM_018344.6(SLC29A3):c.1201C>T (p.Arg401Cys) rs746998307
NM_018344.6(SLC29A3):c.1202G>A (p.Arg401His) rs199861210
NM_018344.6(SLC29A3):c.1219G>A (p.Val407Met) rs144517514
NM_018344.6(SLC29A3):c.1235A>G (p.Asp412Gly)
NM_018344.6(SLC29A3):c.1285C>A (p.Leu429Ile)
NM_018344.6(SLC29A3):c.1292C>T (p.Thr431Ile)
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=) rs373404056
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=)
NM_018344.6(SLC29A3):c.145C>T (p.Arg49Cys)
NM_018344.6(SLC29A3):c.146G>C (p.Arg49Pro) rs201610819
NM_018344.6(SLC29A3):c.148T>C (p.Phe50Leu) rs769621228
NM_018344.6(SLC29A3):c.18G>A (p.Glu6=)
NM_018344.6(SLC29A3):c.199C>T (p.Pro67Ser) rs142216905
NM_018344.6(SLC29A3):c.219T>C (p.Thr73=)
NM_018344.6(SLC29A3):c.225G>A (p.Lys75=)
NM_018344.6(SLC29A3):c.22G>A (p.Asp8Asn) rs558547846
NM_018344.6(SLC29A3):c.242A>G (p.Lys81Arg)
NM_018344.6(SLC29A3):c.248G>A (p.Arg83His) rs370566644
NM_018344.6(SLC29A3):c.252C>G (p.Asn84Lys) rs749057267
NM_018344.6(SLC29A3):c.269C>T (p.Thr90Ile) rs138389471
NM_018344.6(SLC29A3):c.300+5G>A
NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup)
NM_018344.6(SLC29A3):c.325G>A (p.Val109Ile) rs138640615
NM_018344.6(SLC29A3):c.337G>A (p.Val113Met) rs180984559
NM_018344.6(SLC29A3):c.340C>G (p.Pro114Ala)
NM_018344.6(SLC29A3):c.365A>G (p.Asn122Ser) rs772599816
NM_018344.6(SLC29A3):c.366C>A (p.Asn122Lys) rs1327430777
NM_018344.6(SLC29A3):c.385G>A (p.Val129Ile) rs768974539
NM_018344.6(SLC29A3):c.395A>G (p.His132Arg)
NM_018344.6(SLC29A3):c.397A>G (p.Ile133Val)
NM_018344.6(SLC29A3):c.40A>G (p.Asn14Asp) rs541461094
NM_018344.6(SLC29A3):c.420G>A (p.Thr140=) rs374748823
NM_018344.6(SLC29A3):c.424A>G (p.Ile142Val) rs1589237723
NM_018344.6(SLC29A3):c.431C>G (p.Ala144Gly)
NM_018344.6(SLC29A3):c.484C>T (p.Arg162Cys) rs148381602
NM_018344.6(SLC29A3):c.506T>C (p.Ile169Thr)
NM_018344.6(SLC29A3):c.508G>C (p.Val170Leu)
NM_018344.6(SLC29A3):c.516G>A (p.Met172Ile) rs1554817114
NM_018344.6(SLC29A3):c.517G>A (p.Val173Met) rs752487563
NM_018344.6(SLC29A3):c.529G>A (p.Gly177Ser)
NM_018344.6(SLC29A3):c.530G>A (p.Gly177Asp)
NM_018344.6(SLC29A3):c.587G>A (p.Arg196Lys)
NM_018344.6(SLC29A3):c.59C>G (p.Thr20Arg)
NM_018344.6(SLC29A3):c.5C>T (p.Ala2Val)
NM_018344.6(SLC29A3):c.605T>C (p.Ile202Thr)
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=)
NM_018344.6(SLC29A3):c.629C>T (p.Thr210Met) rs146654579
NM_018344.6(SLC29A3):c.637G>A (p.Ala213Thr)
NM_018344.6(SLC29A3):c.650T>C (p.Leu217Ser)
NM_018344.6(SLC29A3):c.674A>G (p.Asp225Gly)
NM_018344.6(SLC29A3):c.676G>T (p.Val226Leu)
NM_018344.6(SLC29A3):c.688G>A (p.Ala230Thr) rs147701543
NM_018344.6(SLC29A3):c.68G>A (p.Ser23Asn) rs146423891
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) rs147552838
NM_018344.6(SLC29A3):c.713_715del (p.Thr238_Val239delinsIle)
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
NM_018344.6(SLC29A3):c.719T>G (p.Phe240Cys) rs1589240617
NM_018344.6(SLC29A3):c.737G>A (p.Gly246Glu)
NM_018344.6(SLC29A3):c.743A>G (p.Tyr248Cys)
NM_018344.6(SLC29A3):c.770C>G (p.Ala257Gly) rs148164425
NM_018344.6(SLC29A3):c.770C>T (p.Ala257Val)
NM_018344.6(SLC29A3):c.797C>T (p.Ala266Val) rs142991278
NM_018344.6(SLC29A3):c.798G>A (p.Ala266=) rs370631755
NM_018344.6(SLC29A3):c.799G>A (p.Ala267Thr)
NM_018344.6(SLC29A3):c.800C>A (p.Ala267Asp) rs757102651
NM_018344.6(SLC29A3):c.804T>C (p.His268=) rs896755457
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) rs566110994
NM_018344.6(SLC29A3):c.862T>A (p.Ser288Thr) rs368747183
NM_018344.6(SLC29A3):c.872T>C (p.Ile291Thr)
NM_018344.6(SLC29A3):c.874G>C (p.Asp292His)
NM_018344.6(SLC29A3):c.89C>T (p.Ala30Val)
NM_018344.6(SLC29A3):c.914C>T (p.Thr305Met)
NM_018344.6(SLC29A3):c.914_915delinsTC (p.Thr305Ile) rs1589244189
NM_018344.6(SLC29A3):c.920G>A (p.Ser307Asn) rs556688985
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val) rs139066012
NM_018344.6(SLC29A3):c.973G>A (p.Ala325Thr) rs144183340
NM_018344.6(SLC29A3):c.986A>G (p.Asn329Ser) rs1554818046
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=) rs147814367
NM_018344.6(SLC29A3):c.991G>A (p.Glu331Lys) rs200004327

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