ClinVar Miner

List of variants reported as uncertain significance for Welander distal myopathy

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Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_022173.4(TIA1):c.475-3C>T rs200499196 0.00014
NM_022173.4(TIA1):c.880G>A (p.Val294Met) rs144296151 0.00014
NM_022173.4(TIA1):c.1078G>A (p.Val360Met) rs201905164 0.00013
NM_022173.4(TIA1):c.154G>A (p.Glu52Lys) rs183810707 0.00009
NM_022173.4(TIA1):c.170G>A (p.Arg57His) rs778629190 0.00009
NM_022173.4(TIA1):c.1006G>A (p.Gly336Ser) rs200963371 0.00004
NM_022173.4(TIA1):c.223-3T>A rs750261656 0.00004
NM_022173.4(TIA1):c.277+3_277+5dup rs1266600719 0.00004
NM_022173.4(TIA1):c.869T>C (p.Met290Thr) rs116707801 0.00004
NM_022173.4(TIA1):c.1141G>A (p.Ala381Thr) rs768554955 0.00003
NM_022173.4(TIA1):c.770A>T (p.Asn257Ile) rs765028674 0.00003
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu) rs757332023 0.00002
NM_022173.4(TIA1):c.1157A>C (p.Gln386Pro) rs199700349 0.00002
NM_022173.4(TIA1):c.1096C>T (p.Gln366Ter) rs935618716 0.00001
NM_022173.4(TIA1):c.1108A>G (p.Met370Val) rs752969561 0.00001
NM_022173.4(TIA1):c.143A>G (p.Tyr48Cys) rs370430518 0.00001
NM_022173.4(TIA1):c.398C>T (p.Ser133Leu) rs375191972 0.00001
NM_022173.4(TIA1):c.41T>G (p.Leu14Arg) rs1688810005 0.00001
NM_022173.4(TIA1):c.683A>T (p.Gln228Leu) rs763253859 0.00001
NM_022173.4(TIA1):c.692G>A (p.Arg231His) rs1379346485 0.00001
NM_022173.4(TIA1):c.928G>A (p.Gly310Ser) rs774668067 0.00001
NM_022173.4(TIA1):c.971C>G (p.Pro324Arg) rs767406040 0.00001
NM_022173.4(TIA1):c.985G>A (p.Val329Ile) rs780894412 0.00001
NC_000002.11:g.(?_70439851)_(70458006_?)dup
NC_000002.11:g.(?_70439851)_(70475562_?)dup
NC_000002.12:g.(?_70212709)_(70248440_?)del
NM_022173.4(TIA1):c.1002G>A (p.Met334Ile)
NM_022173.4(TIA1):c.1038G>C (p.Gln346His)
NM_022173.4(TIA1):c.1059G>T (p.Trp353Cys) rs1676840992
NM_022173.4(TIA1):c.1072T>G (p.Tyr358Asp)
NM_022173.4(TIA1):c.1082A>C (p.Gln361Pro) rs556545503
NM_022173.4(TIA1):c.1100dup (p.Asn367fs)
NM_022173.4(TIA1):c.1117A>G (p.Asn373Asp) rs1251696640
NM_022173.4(TIA1):c.1118A>G (p.Asn373Ser) rs1573120141
NM_022173.4(TIA1):c.1156del (p.Gln386fs) rs1553422555
NM_022173.4(TIA1):c.124-1G>A
NM_022173.4(TIA1):c.125C>T (p.Thr42Ile)
NM_022173.4(TIA1):c.155A>C (p.Glu52Ala) rs2104451000
NM_022173.4(TIA1):c.159T>G (p.Phe53Leu)
NM_022173.4(TIA1):c.167A>G (p.His56Arg) rs1352651621
NM_022173.4(TIA1):c.172C>A (p.His58Asn) rs1422884714
NM_022173.4(TIA1):c.183_194del (p.Ala62_Ala65del)
NM_022173.4(TIA1):c.184G>A (p.Ala62Thr)
NM_022173.4(TIA1):c.188T>C (p.Leu63Ser) rs2104450188
NM_022173.4(TIA1):c.209A>T (p.Lys70Met) rs1685916767
NM_022173.4(TIA1):c.223-6_223-3del
NM_022173.4(TIA1):c.27-6T>A rs1573660635
NM_022173.4(TIA1):c.272C>G (p.Thr91Arg)
NM_022173.4(TIA1):c.277+6T>G rs1685072494
NM_022173.4(TIA1):c.277+9A>G
NM_022173.4(TIA1):c.301C>A (p.Arg101Ser)
NM_022173.4(TIA1):c.302G>A (p.Arg101His)
NM_022173.4(TIA1):c.311A>T (p.Asp104Val) rs143209672
NM_022173.4(TIA1):c.313C>T (p.His105Tyr)
NM_022173.4(TIA1):c.31G>A (p.Val11Ile)
NM_022173.4(TIA1):c.328G>A (p.Val110Ile) rs776157438
NM_022173.4(TIA1):c.362A>G (p.Asp121Gly)
NM_022173.4(TIA1):c.380C>T (p.Ala127Val) rs1558837955
NM_022173.4(TIA1):c.397T>C (p.Ser133Pro)
NM_022173.4(TIA1):c.398+3A>G rs1157656176
NM_022173.4(TIA1):c.3G>A (p.Met1Ile)
NM_022173.4(TIA1):c.406C>T (p.Arg136Ter)
NM_022173.4(TIA1):c.422T>C (p.Met141Thr) rs1558817897
NM_022173.4(TIA1):c.434A>C (p.Lys145Thr) rs2104292945
NM_022173.4(TIA1):c.467A>C (p.Asn156Thr) rs2104292077
NM_022173.4(TIA1):c.475-11G>T
NM_022173.4(TIA1):c.475-12_475-10del rs2103955728
NM_022173.4(TIA1):c.507C>T (p.Gly169=) rs2103954591
NM_022173.4(TIA1):c.538_541del (p.Asn180fs) rs2103953996
NM_022173.4(TIA1):c.557C>A (p.Pro186His) rs2103953680
NM_022173.4(TIA1):c.562G>T (p.Ala188Ser) rs756853891
NM_022173.4(TIA1):c.572G>T (p.Ser191Ile)
NM_022173.4(TIA1):c.583+1G>A rs2103953108
NM_022173.4(TIA1):c.584-14T>A
NM_022173.4(TIA1):c.597G>C (p.Gln199His) rs202123982
NM_022173.4(TIA1):c.603A>G (p.Ser201=) rs2103941719
NM_022173.4(TIA1):c.634A>G (p.Ser212Gly)
NM_022173.4(TIA1):c.652T>C (p.Cys218Arg)
NM_022173.4(TIA1):c.679+16C>G rs1678655363
NM_022173.4(TIA1):c.689T>C (p.Met230Thr) rs1678600341
NM_022173.4(TIA1):c.690G>A (p.Met230Ile)
NM_022173.4(TIA1):c.70C>G (p.Leu24Val) rs1254426258
NM_022173.4(TIA1):c.737T>A (p.Phe246Tyr)
NM_022173.4(TIA1):c.758T>G (p.Phe253Cys)
NM_022173.4(TIA1):c.764+16_764+17insTGGTTTTTTTTTTTTTTTTTTNNNNNNNNNNNCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_022173.4(TIA1):c.775C>A (p.His259Asn) rs1678165172
NM_022173.4(TIA1):c.787G>T (p.Ala263Ser) rs2103907507
NM_022173.4(TIA1):c.796A>G (p.Ile266Val)
NM_022173.4(TIA1):c.7G>A (p.Asp3Asn)
NM_022173.4(TIA1):c.802T>A (p.Ser268Thr) rs2103907183
NM_022173.4(TIA1):c.805G>A (p.Val269Ile) rs1678158814
NM_022173.4(TIA1):c.820A>T (p.Ile274Phe) rs539059746
NM_022173.4(TIA1):c.850G>C (p.Gly284Arg)
NM_022173.4(TIA1):c.880G>C (p.Val294Leu)
NM_022173.4(TIA1):c.880G>T (p.Val294Leu)
NM_022173.4(TIA1):c.889C>G (p.Gln297Glu)
NM_022173.4(TIA1):c.902G>T (p.Gly301Val)
NM_022173.4(TIA1):c.913C>T (p.Pro305Ser) rs2103876011
NM_022173.4(TIA1):c.914C>G (p.Pro305Arg)
NM_022173.4(TIA1):c.936G>T (p.Trp312Cys)
NM_022173.4(TIA1):c.938A>G (p.Tyr313Cys)
NM_022173.4(TIA1):c.970C>T (p.Pro324Ser)
NM_022173.4(TIA1):c.985G>T (p.Val329Phe)
NM_022173.4(TIA1):c.98G>T (p.Cys33Phe) rs1360797921
NM_022173.4(TIA1):c.992C>T (p.Ala331Val) rs1677653225

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