ClinVar Miner

List of variants reported as uncertain significance for amyotrophic lateral sclerosis type 10

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_007375.4(TARDBP):c.*1622A>T rs551513393 0.00167
NM_007375.4(TARDBP):c.*2154G>T rs886045048 0.00046
NM_007375.4(TARDBP):c.*666G>A rs778834503 0.00032
NM_007375.4(TARDBP):c.*2773A>G rs187380325 0.00031
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_007375.4(TARDBP):c.*670T>C rs745611651 0.00021
NM_001097577.3(ANG):c.3G>A (p.Met1Ile) rs201068740 0.00020
NM_007375.4(TARDBP):c.*214T>C rs557787340 0.00019
NM_007375.4(TARDBP):c.*2823T>C rs961126665 0.00016
NM_007375.4(TARDBP):c.36C>T (p.Asn12=) rs565091566 0.00008
NM_007375.4(TARDBP):c.*663C>T rs1401373740 0.00007
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser) rs80356742 0.00004
NM_007375.4(TARDBP):c.57A>G (p.Pro19=) rs532319219 0.00004
NM_007375.3(TARDBP):c.-117G>A rs886045031 0.00003
NM_007375.3(TARDBP):c.-126G>T rs886045030 0.00003
NM_007375.4(TARDBP):c.*129T>C rs886045036 0.00003
NM_007375.4(TARDBP):c.*2123T>C rs1464055996 0.00003
NM_007375.4(TARDBP):c.*2749T>C rs1028236461 0.00003
NM_007375.4(TARDBP):c.*306C>T rs1034083151 0.00003
NM_007375.4(TARDBP):c.*963C>T rs751628760 0.00003
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_005235.3(ERBB4):c.1441A>G (p.Ile481Val) rs368860175 0.00002
NM_007375.4(TARDBP):c.*1795A>G rs886045044 0.00002
NM_007375.4(TARDBP):c.*2334G>A rs182302907 0.00002
NM_007375.4(TARDBP):c.*954A>G rs1295153637 0.00002
NM_007375.4(TARDBP):c.963C>T (p.Ala321=) rs547979470 0.00002
NM_007375.4(TARDBP):c.*2046T>G rs886045047 0.00001
NM_007375.4(TARDBP):c.*2252A>G rs552057039 0.00001
NM_007375.4(TARDBP):c.*2750G>A rs779882516 0.00001
NM_007375.4(TARDBP):c.*551C>G rs750948407 0.00001
NM_007375.4(TARDBP):c.*556G>A rs776417983 0.00001
NM_007375.4(TARDBP):c.*591G>A rs759396520 0.00001
NM_007375.4(TARDBP):c.1015A>G (p.Met339Val) rs1162800752 0.00001
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp) rs80356741 0.00001
NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser) rs142913423 0.00001
NM_007375.4(TARDBP):c.499A>G (p.Met167Val) rs886045035 0.00001
NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys) rs956150244 0.00001
NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser) rs1419402299 0.00001
NM_005235.3(ERBB4):c.3494C>G (p.Pro1165Arg)
NM_006000.3(TUBA4A):c.648C>A (p.Asn216Lys)
NM_006262.4(PRPH):c.1235A>C (p.His412Pro)
NM_007375.4(TARDBP):c.*1084A>T rs886045041
NM_007375.4(TARDBP):c.*142T>C rs1643667051
NM_007375.4(TARDBP):c.*159A>C rs886045037
NM_007375.4(TARDBP):c.*2005T>C rs886045045
NM_007375.4(TARDBP):c.*2029C>T rs886045046
NM_007375.4(TARDBP):c.*2260T>G rs1241104365
NM_007375.4(TARDBP):c.*2360C>T rs886045049
NM_007375.4(TARDBP):c.*560A>T rs1218479013
NM_007375.4(TARDBP):c.*56C>T rs1440666601
NM_007375.4(TARDBP):c.*616G>C rs1401947753
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.*763G>A rs1643678827
NM_007375.4(TARDBP):c.*842G>A rs886045039
NM_007375.4(TARDBP):c.*862G>T rs886045040
NM_007375.4(TARDBP):c.-42C>T rs886045033
NM_007375.4(TARDBP):c.-77G>A rs886045032
NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser)
NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp)
NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg) rs1553159719
NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)
NM_007375.4(TARDBP):c.1108_1122dup (p.Gly370_Tyr374dup) rs1570725407
NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe) rs1643661597
NM_007375.4(TARDBP):c.1122T>A (p.Tyr374Ter)
NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter) rs147795017
NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)
NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter)
NM_007375.4(TARDBP):c.1141G>A (p.Ala381Thr)
NM_007375.4(TARDBP):c.1148T>C (p.Ile383Thr)
NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter) rs2100857066
NM_007375.4(TARDBP):c.1157G>A (p.Gly386Glu)
NM_007375.4(TARDBP):c.1167_1172dup (p.Ala391_Gly392insAsnAla)
NM_007375.4(TARDBP):c.1178C>T (p.Ser393Leu) rs80356743
NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp) rs2100857132
NM_007375.4(TARDBP):c.1213A>G (p.Met405Val)
NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)
NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp) rs1643465434
NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile) rs1553159049
NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg)
NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe)
NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu)
NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln) rs1219922877
NM_007375.4(TARDBP):c.639G>C (p.Gln213His)
NM_007375.4(TARDBP):c.717T>C (p.Ile239=) rs1643650855
NM_007375.4(TARDBP):c.776A>G (p.Asn259Ser)
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) rs121908395
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) rs1643653768
NM_007375.4(TARDBP):c.941G>C (p.Gly314Ala)
NM_007375.4(TARDBP):c.944C>T (p.Ala315Val)
NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu)
NM_007375.4(TARDBP):c.95C>T (p.Thr32Ile)
NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr)
NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn) rs80356728

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