ClinVar Miner

List of variants in gene KANSL1 reported as uncertain significance for not provided

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.*954C>G rs150500194 0.00393
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00024
NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser) rs200903841 0.00008
NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile) rs143589497 0.00007
NM_015443.4(KANSL1):c.117C>T (p.Asn39=) rs747136051 0.00003
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182 0.00002
NM_015443.4(KANSL1):c.1421G>A (p.Arg474His) rs770719196 0.00001
NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala) rs947698008 0.00001
NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr) rs768152581 0.00001
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln) rs752047149 0.00001
NM_015443.4(KANSL1):c.682A>T (p.Thr228Ser) rs762022186 0.00001
NM_015443.4(KANSL1):c.798A>G (p.Lys266=) rs765667414 0.00001
NM_015443.4(KANSL1):c.-23_-2del rs2147753838
NM_015443.4(KANSL1):c.1000A>T (p.Asn334Tyr) rs112150341
NM_015443.4(KANSL1):c.1036C>A (p.Leu346Met)
NM_015443.4(KANSL1):c.1075A>G (p.Ser359Gly) rs1309097254
NM_015443.4(KANSL1):c.1142A>G (p.Glu381Gly) rs796052602
NM_015443.4(KANSL1):c.1274A>G (p.Gln425Arg) rs2147730177
NM_015443.4(KANSL1):c.1281T>G (p.His427Gln)
NM_015443.4(KANSL1):c.1289T>A (p.Leu430Gln)
NM_015443.4(KANSL1):c.1297A>T (p.Arg433Trp) rs2146948079
NM_015443.4(KANSL1):c.1325G>T (p.Arg442Leu)
NM_015443.4(KANSL1):c.1420C>G (p.Arg474Gly)
NM_015443.4(KANSL1):c.1463C>T (p.Pro488Leu)
NM_015443.4(KANSL1):c.1563C>G (p.Asn521Lys) rs886043787
NM_015443.4(KANSL1):c.1586A>G (p.His529Arg) rs2078428545
NM_015443.4(KANSL1):c.158C>G (p.Ala53Gly) rs796052599
NM_015443.4(KANSL1):c.1774C>G (p.Arg592Gly) rs774841964
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=) rs150800846
NM_015443.4(KANSL1):c.190C>T (p.Arg64Ter)
NM_015443.4(KANSL1):c.2053C>A (p.Leu685Met)
NM_015443.4(KANSL1):c.205A>G (p.Lys69Glu)
NM_015443.4(KANSL1):c.2220A>G (p.Gln740=)
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly) rs796052596
NM_015443.4(KANSL1):c.2392_2392+1dup
NM_015443.4(KANSL1):c.2495C>A (p.Ser832Tyr)
NM_015443.4(KANSL1):c.2534G>A (p.Ser845Asn) rs796052597
NM_015443.4(KANSL1):c.2569G>A (p.Glu857Lys) rs2146325036
NM_015443.4(KANSL1):c.2581G>T (p.Asp861Tyr)
NM_015443.4(KANSL1):c.2660C>T (p.Thr887Met)
NM_015443.4(KANSL1):c.2666+3A>G rs2146324420
NM_015443.4(KANSL1):c.2667-4dup rs2077067052
NM_015443.4(KANSL1):c.2672G>A (p.Arg891Gln)
NM_015443.4(KANSL1):c.2724+3A>G
NM_015443.4(KANSL1):c.2818C>G (p.Pro940Ala)
NM_015443.4(KANSL1):c.3105G>C (p.Trp1035Cys) rs2146302096
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter) rs2146300587
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro) rs2077005160
NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu) rs796052598
NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs) rs761370843
NM_015443.4(KANSL1):c.403T>G (p.Leu135Val) rs1064797226
NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg) rs796052600
NM_015443.4(KANSL1):c.491G>A (p.Ser164Asn)
NM_015443.4(KANSL1):c.517_518delinsAT (p.Ser173Ile) rs2046297678
NM_015443.4(KANSL1):c.529A>G (p.Asn177Asp)
NM_015443.4(KANSL1):c.578T>C (p.Met193Thr) rs2147744627
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg) rs138175526
NM_015443.4(KANSL1):c.661A>G (p.Thr221Ala)
NM_015443.4(KANSL1):c.700G>C (p.Val234Leu)
NM_015443.4(KANSL1):c.749C>G (p.Pro250Arg)
NM_015443.4(KANSL1):c.749C>T (p.Pro250Leu)
NM_015443.4(KANSL1):c.74C>T (p.Pro25Leu)
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala) rs780074451
NM_015443.4(KANSL1):c.761C>T (p.Ser254Phe)
NM_015443.4(KANSL1):c.779dup (p.Val261fs) rs748018297
NM_015443.4(KANSL1):c.917A>G (p.Gln306Arg)
NM_015443.4(KANSL1):c.919G>A (p.Val307Ile)
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473

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