ClinVar Miner

List of variants in gene TPO studied for thyroid gland disorder

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_001206744.2(TPO):c.1193G>C (p.Ser398Thr) rs2175977 0.65696
NM_001206744.2(TPO):c.2540T>C (p.Val847Ala) rs1126799 0.62508
NM_001206744.2(TPO):c.2173A>C (p.Thr725Pro) rs732609 0.46998
NM_001206744.2(TPO):c.1117G>T (p.Ala373Ser) rs2280132 0.43513
NM_001206744.2(TPO):c.2145C>T (p.Pro715=) rs732608 0.41037
NM_001206744.2(TPO):c.*81C>G rs1042589 0.38164
NM_001206744.2(TPO):c.1998C>T (p.Asp666=) rs1126797 0.35994
NM_001206744.2(TPO):c.*115G>T rs28915689 0.09016
NM_001206744.2(TPO):c.2286C>T (p.Arg762=) rs13429240 0.04976
NM_001206744.2(TPO):c.2116A>G (p.Met706Val) rs13431173 0.04970
NM_001206744.2(TPO):c.2215+5A>C rs13431282 0.04969
NM_001206744.2(TPO):c.1852G>A (p.Val618Met) rs10189135 0.04964
NM_001206744.2(TPO):c.1032C>G (p.Thr344=) rs28910597 0.02028
NM_001206744.2(TPO):c.1587A>C (p.Leu529Phe) rs114796303 0.01634
NM_001206744.2(TPO):c.1566T>C (p.Ala522=) rs17091745 0.01414
NM_001206744.2(TPO):c.180-6C>A rs78253418 0.00923
NM_001206744.2(TPO):c.1491C>T (p.Ile497=) rs149718460 0.00903
NM_001206744.2(TPO):c.-51C>T rs28909986 0.00816
NM_001206744.2(TPO):c.1728G>A (p.Ala576=) rs78406347 0.00702
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp) rs114406277 0.00629
NM_001206744.2(TPO):c.2387-12T>C rs28912997 0.00509
NM_001206744.2(TPO):c.2749-4G>A rs28915686 0.00476
NM_001206744.2(TPO):c.30G>A (p.Thr10=) rs28909989 0.00362
NM_001206744.2(TPO):c.2242G>A (p.Val748Met) rs28991292 0.00197
NM_001206744.2(TPO):c.1483G>A (p.Ala495Thr) rs28910612 0.00187
NM_001206744.2(TPO):c.1317G>A (p.Lys439=) rs28910598 0.00175
NM_001206744.2(TPO):c.95-14A>G rs116390200 0.00140
NM_001206744.2(TPO):c.840G>A (p.Pro280=) rs187974063 0.00135
NM_001206744.2(TPO):c.612+15C>T rs182021224 0.00133
NM_001206744.2(TPO):c.2386+8C>G rs183118123 0.00114
NM_001206744.2(TPO):c.*113G>A rs28915688 0.00107
NM_001206744.2(TPO):c.208C>G (p.Pro70Ala) rs17855780 0.00106
NM_001206744.2(TPO):c.2536C>T (p.Arg846Trp) rs28913014 0.00100
NM_001206744.2(TPO):c.*54C>T rs180847489 0.00099
NM_001206744.2(TPO):c.2499C>T (p.Asp833=) rs142148533 0.00083
NM_001206744.2(TPO):c.660C>T (p.Val220=) rs151154074 0.00076
NM_001206744.2(TPO):c.1758C>T (p.His586=) rs151122101 0.00069
NM_001206744.2(TPO):c.2051G>A (p.Arg684His) rs151064519 0.00051
NM_001206744.2(TPO):c.2212C>G (p.Gln738Glu) rs200796513 0.00041
NM_001206744.2(TPO):c.94+13C>T rs184087573 0.00038
NM_001206744.2(TPO):c.404C>A (p.Pro135His) rs61758083 0.00034
NM_001206744.2(TPO):c.2524G>A (p.Gly842Arg) rs201659055 0.00024
NM_001206744.2(TPO):c.1082G>T (p.Arg361Leu) rs201781919 0.00021
NM_001206744.2(TPO):c.9G>A (p.Ala3=) rs61758084 0.00019
NM_001206744.2(TPO):c.*144T>C rs767835569 0.00016
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu) rs121908088 0.00016
NM_001206744.2(TPO):c.501C>T (p.Gly167=) rs370072872 0.00015
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) rs121908083 0.00014
NM_001206744.2(TPO):c.2007-5T>C rs374558153 0.00014
NM_001206744.2(TPO):c.2241C>T (p.Ser747=) rs373350060 0.00012
NM_001206744.2(TPO):c.502G>A (p.Ala168Thr) rs150812908 0.00011
NM_001206744.2(TPO):c.2422del (p.Cys808fs) rs763662774 0.00010
NM_001206744.2(TPO):c.1899T>C (p.Asp633=) rs199621917 0.00009
NM_001206744.2(TPO):c.612G>A (p.Pro204=) rs3732349 0.00009
NM_001206744.2(TPO):c.617G>A (p.Arg206Gln) rs144088710 0.00009
NM_001206744.2(TPO):c.650A>G (p.Asn217Ser) rs148683218 0.00009
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_001206744.2(TPO):c.2500G>A (p.Asp834Asn) rs368163933 0.00008
NM_001206744.2(TPO):c.491C>A (p.Pro164His) rs146913878 0.00007
NM_001206744.2(TPO):c.*55G>A rs529769659 0.00006
NM_001206744.2(TPO):c.2306G>A (p.Arg769Gln) rs200684166 0.00006
NM_001206744.2(TPO):c.1863G>A (p.Lys621=) rs373213982 0.00005
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys) rs121908085 0.00005
NM_001206744.2(TPO):c.*124G>C rs747816995 0.00004
NM_001206744.2(TPO):c.-1-11G>A rs777940436 0.00004
NM_001206744.2(TPO):c.1037C>T (p.Ala346Val) rs750980404 0.00004
NM_001206744.2(TPO):c.1786G>T (p.Glu596Ter) rs749174434 0.00004
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter) rs770781635 0.00004
NM_001206744.2(TPO):c.2577C>T (p.Ile859=) rs760976450 0.00004
NM_001206744.2(TPO):c.2758G>C (p.Gly920Arg) rs780185747 0.00004
NM_001206744.2(TPO):c.387del (p.Asn129fs) rs766399662 0.00004
NM_001206744.2(TPO):c.759C>T (p.Phe253=) rs757051221 0.00004
NM_001206744.2(TPO):c.1294G>A (p.Ala432Thr) rs886054900 0.00003
NM_001206744.2(TPO):c.1313G>A (p.Arg438His) rs1210957618 0.00003
NM_001206744.2(TPO):c.1338+5G>A rs886054901 0.00003
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) rs140124953 0.00003
NM_001206744.2(TPO):c.2537G>A (p.Arg846Gln) rs141598673 0.00003
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_001206744.2(TPO):c.1312C>T (p.Arg438Cys) rs768830989 0.00002
NM_001206744.2(TPO):c.2488G>A (p.Glu830Lys) rs145974595 0.00002
NM_001206744.2(TPO):c.2538G>C (p.Arg846=) rs747010460 0.00002
NM_001206744.2(TPO):c.587T>C (p.Leu196Ser) rs370357356 0.00002
NM_001206744.2(TPO):c.819A>G (p.Gln273=) rs771160950 0.00002
NM_001206744.2(TPO):c.95-4G>A rs757494249 0.00002
NM_001206744.2(TPO):c.*37T>C rs766791306 0.00001
NM_001206744.2(TPO):c.-10G>C rs531273408 0.00001
NM_001206744.2(TPO):c.1059C>T (p.His353=) rs886054899 0.00001
NM_001206744.2(TPO):c.1119G>A (p.Ala373=) rs1167826982 0.00001
NM_001206744.2(TPO):c.1159G>A (p.Gly387Arg) rs753012199 0.00001
NM_001206744.2(TPO):c.1477G>A (p.Gly493Ser) rs778515113 0.00001
NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter) rs121908082 0.00001
NM_001206744.2(TPO):c.1943G>A (p.Arg648Gln) rs121908086 0.00001
NM_001206744.2(TPO):c.1955dup (p.Phe653fs) rs1491142370 0.00001
NM_001206744.2(TPO):c.2007-12C>T rs546535782 0.00001
NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp) rs121908087 0.00001
NM_001206744.2(TPO):c.2181G>T (p.Met727Ile) rs886054919 0.00001
NM_001206744.2(TPO):c.2436G>A (p.Ala812=) rs763673114 0.00001
NM_001206744.2(TPO):c.265C>T (p.Arg89Ter) rs759809305 0.00001
NM_001206744.2(TPO):c.31_50dup (p.Glu17fs) rs774713681 0.00001
NM_001206744.2(TPO):c.346A>G (p.Thr116Ala) rs1029043404 0.00001
NM_001206744.2(TPO):c.348G>A (p.Thr116=) rs374499898 0.00001
NM_001206744.2(TPO):c.391T>C (p.Ser131Pro) rs201800220 0.00001
NM_001206744.2(TPO):c.524G>A (p.Arg175Gln) rs571832933 0.00001
NC_000002.11:g.(1418275_1426816)_(1520755_1544365)dup
NM_001206744.2(TPO):c.*63dup rs749486726
NM_001206744.2(TPO):c.-2+19T>C rs886054871
NM_001206744.2(TPO):c.-69C>T rs1662565752
NM_001206744.2(TPO):c.-75A>G rs2071403
NM_001206744.2(TPO):c.1009G>A (p.Glu337Lys)
NM_001206744.2(TPO):c.1039G>T (p.Glu347Ter)
NM_001206744.2(TPO):c.1138G>A (p.Gly380Ser) rs766587495
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001206744.2(TPO):c.1208del (p.Leu403fs)
NM_001206744.2(TPO):c.1277C>G (p.Ala426Gly) rs61758082
NM_001206744.2(TPO):c.12C>G (p.Leu4=) rs9678281
NM_001206744.2(TPO):c.12C>T (p.Leu4=) rs9678281
NM_001206744.2(TPO):c.1336del (p.Gln446fs)
NM_001206744.2(TPO):c.1339-1147T>C
NM_001206744.2(TPO):c.1339A>T (p.Ile447Phe) rs104893669
NM_001206744.2(TPO):c.1430_1450del (p.Ala477_Asn483del) rs1670957669
NM_001206744.2(TPO):c.1496del (p.Pro499fs) rs1573380429
NM_001206744.2(TPO):c.1558C>T (p.His520Tyr) rs1057518950
NM_001206744.2(TPO):c.1566T>A (p.Ala522=) rs17091745
NM_001206744.2(TPO):c.1598-2A>C
NM_001206744.2(TPO):c.1747G>T (p.Gly583Cys) rs1671335901
NM_001206744.2(TPO):c.1750C>T (p.Arg584Trp)
NM_001206744.2(TPO):c.1753dup (p.Asp585fs)
NM_001206744.2(TPO):c.1768+1_1768+9dup rs1385139268
NM_001206744.2(TPO):c.1768G>A (p.Gly590Ser) rs121908084
NM_001206744.2(TPO):c.179+2T>C
NM_001206744.2(TPO):c.1857C>G (p.Ala619=) rs140322336
NM_001206744.2(TPO):c.1961C>T (p.Ala654Val) rs886054918
NM_001206744.2(TPO):c.1993C>T (p.Arg665Trp)
NM_001206744.2(TPO):c.1999G>A (p.Gly667Ser)
NM_001206744.2(TPO):c.2007-9_2007-7del rs28991288
NM_001206744.2(TPO):c.2044C>T (p.Gln682Ter)
NM_001206744.2(TPO):c.2088_2089del (p.Cys696_Asp697delinsTer)
NM_001206744.2(TPO):c.2141del (p.Phe714fs)
NM_001206744.2(TPO):c.214C>T (p.Gln72Ter) rs200273438
NM_001206744.2(TPO):c.2299T>C (p.Ser767Pro) rs1672384154
NM_001206744.2(TPO):c.2311G>A (p.Gly771Arg)
NM_001206744.2(TPO):c.2314_2332del (p.Tyr772fs)
NM_001206744.2(TPO):c.2315A>G (p.Tyr772Cys) rs1382787497
NM_001206744.2(TPO):c.2421del (p.Cys808fs) rs760307139
NM_001206744.2(TPO):c.2421dup (p.Cys808fs) rs760307139
NM_001206744.2(TPO):c.2473T>C (p.Cys825Arg) rs2125001180
NM_001206744.2(TPO):c.2492T>G (p.Leu831Ter)
NM_001206744.2(TPO):c.2512del (p.Cys838fs) rs1573459560
NM_001206744.2(TPO):c.251del (p.Ser84fs)
NM_001206744.2(TPO):c.2539G>A (p.Val847Met) rs1012881283
NM_001206744.2(TPO):c.2618+1G>T
NM_001206744.2(TPO):c.266G>A (p.Arg89Gln) rs200794960
NM_001206744.2(TPO):c.2749-1G>A
NM_001206744.2(TPO):c.419del (p.Pro140fs)
NM_001206744.2(TPO):c.443C>T (p.Ala148Val) rs138509145
NM_001206744.2(TPO):c.453C>A (p.Tyr151Ter)
NM_001206744.2(TPO):c.455G>A (p.Arg152Lys)
NM_001206744.2(TPO):c.482+1G>A
NM_001206744.2(TPO):c.543T>G (p.Tyr181Ter)
NM_001206744.2(TPO):c.670_672del (p.Asp224del)
NM_001206744.2(TPO):c.712G>T (p.Asp238Tyr) rs753687508
NM_001206744.2(TPO):c.719A>G (p.Asp240Gly) rs1667768234
NM_001206744.2(TPO):c.736C>T (p.Gln246Ter)
NM_001206744.2(TPO):c.764dup (p.Gly256fs) rs1558307375
NM_001206744.2(TPO):c.769G>T (p.Ala257Ser) rs4927611
NM_001206744.2(TPO):c.796C>T (p.Gln266Ter)
NM_001206744.2(TPO):c.820-15C>T rs1227856624
NM_001206744.2(TPO):c.866T>C (p.Phe289Ser) rs1670028028
NM_001206744.2(TPO):c.870C>A (p.Tyr290Ter)
NM_001206744.2(TPO):c.875C>T (p.Ser292Phe)
NM_001206744.2(TPO):c.905G>A (p.Gly302Asp) rs546895183
NM_001206744.2(TPO):c.920A>C (p.Asn307Thr)

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