ClinVar Miner

List of variants studied for Welander distal myopathy

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Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153 0.00704
NM_022173.4(TIA1):c.947C>G (p.Ala316Gly) rs116828570 0.00661
NM_022173.4(TIA1):c.1086G>A (p.Pro362=) rs72902461 0.00650
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00569
NM_022173.4(TIA1):c.924G>A (p.Gln308=) rs79075815 0.00380
NM_022173.4(TIA1):c.1122G>A (p.Gln374=) rs76710635 0.00347
NM_022173.4(TIA1):c.978T>C (p.Gly326=) rs78236170 0.00319
NM_022173.4(TIA1):c.679+18G>T rs373922488 0.00085
NM_022173.4(TIA1):c.27-14T>G rs374792026 0.00031
NM_022173.4(TIA1):c.48A>G (p.Arg16=) rs115062005 0.00016
NM_022173.4(TIA1):c.398+10A>G rs372161184 0.00014
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.187T>C (p.Leu63=) rs374166300 0.00011
NM_022173.4(TIA1):c.75A>G (p.Gln25=) rs114952383 0.00011
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.918T>C (p.Tyr306=) rs373992720 0.00009
NM_022173.4(TIA1):c.283A>T (p.Thr95Ser) rs767534980 0.00008
NM_022173.4(TIA1):c.738T>C (p.Phe246=) rs567115305 0.00008
NM_022173.4(TIA1):c.1035-7C>T rs202093855 0.00007
NM_022173.4(TIA1):c.33C>T (p.Val11=) rs761527779 0.00006
NM_022173.4(TIA1):c.42T>C (p.Leu14=) rs139181563 0.00006
NM_022173.4(TIA1):c.561C>T (p.Pro187=) rs533863358 0.00006
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.339C>T (p.Leu113=) rs1310209475 0.00004
NM_022173.4(TIA1):c.405C>A (p.Ala135=) rs758482149 0.00004
NM_022173.4(TIA1):c.691C>A (p.Arg231Ser) rs752346516 0.00004
NM_022173.4(TIA1):c.869T>C (p.Met290Thr) rs116707801 0.00004
NM_022173.4(TIA1):c.93A>G (p.Gly31=) rs560119254 0.00004
NM_022173.4(TIA1):c.1035-14A>G rs372228986 0.00003
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.1034+20T>C rs754029121 0.00002
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu) rs757332023 0.00002
NM_022173.4(TIA1):c.1101T>C (p.Asn367=) rs200990761 0.00002
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys) rs747068278 0.00002
NM_022173.4(TIA1):c.1157A>C (p.Gln386Pro) rs199700349 0.00002
NM_022173.4(TIA1):c.277+7A>G rs750466101 0.00002
NM_022173.4(TIA1):c.310+19A>G rs1175481114 0.00002
NM_022173.4(TIA1):c.475-8C>T rs762783979 0.00002
NM_022173.4(TIA1):c.1032T>C (p.Phe344=) rs1014286030 0.00001
NM_022173.4(TIA1):c.1035-20T>G rs1264961449 0.00001
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.1146G>T (p.Gly382=) rs746021823 0.00001
NM_022173.4(TIA1):c.143A>G (p.Tyr48Cys) rs370430518 0.00001
NM_022173.4(TIA1):c.30C>T (p.Tyr10=) rs532963050 0.00001
NM_022173.4(TIA1):c.310+12T>C rs769464163 0.00001
NM_022173.4(TIA1):c.321T>C (p.His107=) rs759209695 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.474+10G>T rs760401337 0.00001
NM_022173.4(TIA1):c.615T>G (p.Val205=) rs774396205 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.764+10G>A rs547201931 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.1035-13C>T
NM_022173.4(TIA1):c.1035-6C>A rs1262396095
NM_022173.4(TIA1):c.1035-8T>C
NM_022173.4(TIA1):c.1035-9C>G
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.123+15C>G
NM_022173.4(TIA1):c.123+7G>A rs1285035427
NM_022173.4(TIA1):c.124-14T>G
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>C (p.Phe53=)
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.205C>A (p.Arg69=) rs568284639
NM_022173.4(TIA1):c.207G>A (p.Arg69=) rs2104449868
NM_022173.4(TIA1):c.209A>T (p.Lys70Met) rs1685916767
NM_022173.4(TIA1):c.222+11G>A
NM_022173.4(TIA1):c.223-14T>A
NM_022173.4(TIA1):c.223-15A>T
NM_022173.4(TIA1):c.223-16A>C
NM_022173.4(TIA1):c.223-3del rs750862626
NM_022173.4(TIA1):c.223-3dup rs750862626
NM_022173.4(TIA1):c.223-4T>G
NM_022173.4(TIA1):c.223-5_223-3del
NM_022173.4(TIA1):c.223-6_223-3del
NM_022173.4(TIA1):c.228C>G (p.Val76=) rs1350429063
NM_022173.4(TIA1):c.237T>C (p.Asn79=) rs2104412830
NM_022173.4(TIA1):c.26+17G>A
NM_022173.4(TIA1):c.26+7C>G rs1230596375
NM_022173.4(TIA1):c.264G>A (p.Lys88=)
NM_022173.4(TIA1):c.27-11T>C
NM_022173.4(TIA1):c.27-13C>G rs1688823152
NM_022173.4(TIA1):c.27-13C>T
NM_022173.4(TIA1):c.27-6T>A rs1573660635
NM_022173.4(TIA1):c.272C>G (p.Thr91Arg)
NM_022173.4(TIA1):c.277+12T>A rs2104411614
NM_022173.4(TIA1):c.277+15T>C
NM_022173.4(TIA1):c.277+6T>G rs1685072494
NM_022173.4(TIA1):c.277+9A>G
NM_022173.4(TIA1):c.278-17C>G rs2104408170
NM_022173.4(TIA1):c.301C>A (p.Arg101Ser)
NM_022173.4(TIA1):c.302G>A (p.Arg101His)
NM_022173.4(TIA1):c.310+14_310+16del
NM_022173.4(TIA1):c.311-20C>T
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.324C>T (p.Val108=)
NM_022173.4(TIA1):c.328G>A (p.Val110Ile) rs776157438
NM_022173.4(TIA1):c.362A>G (p.Asp121Gly)
NM_022173.4(TIA1):c.378T>C (p.Phe126=)
NM_022173.4(TIA1):c.380C>T (p.Ala127Val) rs1558837955
NM_022173.4(TIA1):c.384A>G (p.Pro128=)
NM_022173.4(TIA1):c.397T>C (p.Ser133Pro)
NM_022173.4(TIA1):c.398+11_398+12del rs774191937
NM_022173.4(TIA1):c.398+3A>G rs1157656176
NM_022173.4(TIA1):c.399-14G>T
NM_022173.4(TIA1):c.399-19T>G
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.432A>G (p.Gly144=) rs2104293004
NM_022173.4(TIA1):c.434A>C (p.Lys145Thr) rs2104292945
NM_022173.4(TIA1):c.447T>C (p.Tyr149=)
NM_022173.4(TIA1):c.450C>T (p.Gly150=)
NM_022173.4(TIA1):c.456C>T (p.Val152=)
NM_022173.4(TIA1):c.45C>T (p.Ser15=)
NM_022173.4(TIA1):c.467A>C (p.Asn156Thr) rs2104292077
NM_022173.4(TIA1):c.474+11T>C
NM_022173.4(TIA1):c.474+15_474+17dup rs769573516
NM_022173.4(TIA1):c.475-11G>T
NM_022173.4(TIA1):c.475-12_475-10del rs2103955728
NM_022173.4(TIA1):c.480T>C (p.Ala160=) rs2103955179
NM_022173.4(TIA1):c.486C>T (p.Asn162=)
NM_022173.4(TIA1):c.504T>C (p.Gly168=) rs768840712
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.540C>T (p.Asn180=) rs2103954084
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.584-20_584-19del
NM_022173.4(TIA1):c.584-5A>C rs2103942498
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.645T>G (p.Thr215=) rs2103940711
NM_022173.4(TIA1):c.652T>C (p.Cys218Arg)
NM_022173.4(TIA1):c.679+16C>G rs1678655363
NM_022173.4(TIA1):c.679+7del rs757725649
NM_022173.4(TIA1):c.680-15dup rs778392214
NM_022173.4(TIA1):c.680-16G>T
NM_022173.4(TIA1):c.680-22_680-19del
NM_022173.4(TIA1):c.680-5A>G
NM_022173.4(TIA1):c.680-7C>G
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.747A>G (p.Lys249=)
NM_022173.4(TIA1):c.758T>G (p.Phe253Cys)
NM_022173.4(TIA1):c.759T>C (p.Phe253=)
NM_022173.4(TIA1):c.764+10G>T
NM_022173.4(TIA1):c.764+16_764+17insTGGTTTTTTTTTTTTTTTTTTNNNNNNNNNNNCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_022173.4(TIA1):c.765-14A>G
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.843C>T (p.Cys281=)
NM_022173.4(TIA1):c.846T>C (p.Tyr282=) rs1558756592
NM_022173.4(TIA1):c.850G>C (p.Gly284Arg)
NM_022173.4(TIA1):c.852C>G (p.Gly284=)
NM_022173.4(TIA1):c.880G>C (p.Val294Leu)
NM_022173.4(TIA1):c.880G>T (p.Val294Leu)
NM_022173.4(TIA1):c.889-15A>G
NM_022173.4(TIA1):c.889-17T>C
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.951A>G (p.Gln317=) rs1236324874
NM_022173.4(TIA1):c.970C>T (p.Pro324Ser)
NM_022173.4(TIA1):c.978T>A (p.Gly326=)
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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