ClinVar Miner

List of variants in gene TH reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 567
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000360.4(TH):c.1334+38C>T rs114936120 0.01529
NM_000360.4(TH):c.645-74A>T rs73403741 0.01330
NM_000360.4(TH):c.1335-95T>C rs3842723 0.01177
NM_000360.4(TH):c.91-528G>C rs111400555 0.01061
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00547
NC_000011.10:g.2172174G>A rs149761341 0.00535
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_000360.4(TH):c.644+80A>G rs188105919 0.00449
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000360.4(TH):c.695+39G>A rs73403740 0.00277
NM_000360.4(TH):c.-7C>T rs199925956 0.00098
NM_000360.4(TH):c.695+13T>C rs373030101 0.00089
NM_000360.4(TH):c.1105-48G>A rs371445115 0.00076
NM_000360.4(TH):c.90+907A>G rs1262784684 0.00060
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000360.4(TH):c.91-891G>A rs371277838 0.00029
NM_000360.4(TH):c.67G>A (p.Ala23Thr) rs201081519 0.00028
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985 0.00027
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832 0.00026
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_000360.4(TH):c.1200+11C>T rs372851419 0.00022
NM_000360.4(TH):c.12C>T (p.Pro4=) rs147131010 0.00022
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793 0.00016
NM_000360.4(TH):c.372G>A (p.Gly124=) rs773806238 0.00014
NM_000360.4(TH):c.842-14G>A rs560689972 0.00014
NM_000360.4(TH):c.108G>A (p.Gly36=) rs372002058 0.00012
NM_000360.4(TH):c.1105-12G>C rs367966462 0.00012
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_000360.4(TH):c.91-896G>A rs376736869 0.00012
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000360.4(TH):c.696-7C>T rs780074743 0.00011
NM_000360.4(TH):c.91-828C>T rs764689284 0.00011
NM_000360.4(TH):c.126C>A (p.Ile42=) rs755664117 0.00010
NM_000360.4(TH):c.1389G>A (p.Thr463=) rs370029424 0.00010
NM_000360.4(TH):c.51C>T (p.Ala17=) rs199645400 0.00009
NM_000360.4(TH):c.662G>A (p.Arg221His) rs150559011 0.00009
NM_000360.4(TH):c.842-17C>T rs991661688 0.00009
NM_000360.4(TH):c.576+6_576+14del rs775531779 0.00008
NM_000360.4(TH):c.685A>T (p.Ile229Phe) rs778613708 0.00008
NM_000360.4(TH):c.1476G>A (p.Ala492=) rs146945950 0.00007
NM_000360.4(TH):c.240C>T (p.Ala80=) rs371658705 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000360.4(TH):c.645C>T (p.His215=) rs768037080 0.00007
NM_000360.4(TH):c.104T>C (p.Ile35Thr) rs747420332 0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000360.4(TH):c.1236C>T (p.Phe412=) rs367624648 0.00006
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759 0.00006
NM_000360.4(TH):c.362C>T (p.Pro121Leu) rs760017478 0.00006
NM_000360.4(TH):c.487+8G>A rs749511812 0.00006
NM_000360.4(TH):c.644+19C>T rs769248793 0.00006
NM_000360.4(TH):c.91-897C>T rs762373165 0.00006
NM_000360.4(TH):c.1105-13G>A rs535333944 0.00005
NM_000360.4(TH):c.192C>T (p.Pro64=) rs767080132 0.00005
NM_000360.4(TH):c.297T>C (p.Ala99=) rs1002356459 0.00005
NM_000360.4(TH):c.549C>T (p.Phe183=) rs756278325 0.00005
NM_000360.4(TH):c.678C>T (p.Ala226=) rs139619260 0.00005
NM_000360.4(TH):c.90+23G>A rs551036568 0.00005
NM_000360.4(TH):c.91-867G>A rs1799833 0.00005
NM_000360.4(TH):c.1296C>T (p.Phe432=) rs760210103 0.00004
NM_000360.4(TH):c.1317C>T (p.Asp439=) rs375440221 0.00004
NM_000360.4(TH):c.132C>T (p.Asp44=) rs767310984 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000360.4(TH):c.153G>A (p.Ala51=) rs149580405 0.00004
NM_000360.4(TH):c.24G>A (p.Thr8=) rs529205525 0.00004
NM_000360.4(TH):c.312+17C>T rs368788352 0.00004
NM_000360.4(TH):c.90+30G>A rs200408490 0.00004
NM_000360.4(TH):c.*8G>C rs761910662 0.00003
NM_000360.4(TH):c.1105-4G>A rs772712441 0.00003
NM_000360.4(TH):c.1254C>T (p.Ala418=) rs374772644 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000360.4(TH):c.225G>A (p.Glu75=) rs558597025 0.00003
NM_000360.4(TH):c.286C>T (p.Leu96=) rs74742646 0.00003
NM_000360.4(TH):c.309T>C (p.Phe103=) rs754746512 0.00003
NM_000360.4(TH):c.365G>A (p.Arg122Gln) rs201093528 0.00003
NM_000360.4(TH):c.459G>A (p.Glu153=) rs373986982 0.00003
NM_000360.4(TH):c.695+14G>A rs369545292 0.00003
NM_000360.4(TH):c.714G>A (p.Thr238=) rs747783772 0.00003
NM_000360.4(TH):c.768T>C (p.Ala256=) rs1417486240 0.00003
NM_000360.4(TH):c.90+29C>T rs761081184 0.00003
NM_000360.4(TH):c.91-15C>T rs775705010 0.00003
NM_000360.4(TH):c.984C>T (p.Cys328=) rs371340450 0.00003
NM_000360.4(TH):c.1047+10G>A rs747505017 0.00002
NM_000360.4(TH):c.1047+8G>A rs1399106612 0.00002
NM_000360.4(TH):c.1050C>T (p.Asp350=) rs1421783815 0.00002
NM_000360.4(TH):c.1105-7C>T rs374133473 0.00002
NM_000360.4(TH):c.1320C>T (p.Ala440=) rs1301464480 0.00002
NM_000360.4(TH):c.1335-9C>G rs910277713 0.00002
NM_000360.4(TH):c.1377C>T (p.Phe459=) rs575305786 0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000360.4(TH):c.216C>T (p.Ala72=) rs773288225 0.00002
NM_000360.4(TH):c.288G>C (p.Leu96=) rs151082354 0.00002
NM_000360.4(TH):c.313-15C>T rs1298110996 0.00002
NM_000360.4(TH):c.351C>T (p.Pro117=) rs764429855 0.00002
NM_000360.4(TH):c.360G>A (p.Arg120=) rs761868828 0.00002
NM_000360.4(TH):c.414A>C (p.Arg138=) rs528105731 0.00002
NM_000360.4(TH):c.426C>T (p.Ala142=) rs200598308 0.00002
NM_000360.4(TH):c.534C>T (p.His178=) rs965288727 0.00002
NM_000360.4(TH):c.576+11C>T rs770003580 0.00002
NM_000360.4(TH):c.576+12G>A rs550221603 0.00002
NM_000360.4(TH):c.600C>T (p.Arg200=) rs748661920 0.00002
NM_000360.4(TH):c.729C>T (p.Tyr243=) rs878855308 0.00002
NM_000360.4(TH):c.900G>A (p.Leu300=) rs971671588 0.00002
NM_000360.4(TH):c.977+10C>T rs370829131 0.00002
NM_000360.4(TH):c.978-10C>T rs752258129 0.00002
NM_000360.4(TH):c.978-7C>T rs778560407 0.00002
NM_000360.4(TH):c.1047+7C>T rs771406751 0.00001
NM_000360.4(TH):c.1048-7T>C rs1846081680 0.00001
NM_000360.4(TH):c.1062G>A (p.Ala354=) rs775488051 0.00001
NM_000360.4(TH):c.1077G>A (p.Ser359=) rs759797905 0.00001
NM_000360.4(TH):c.1104+11C>A rs1368988481 0.00001
NM_000360.4(TH):c.1128C>T (p.Phe376=) rs769329337 0.00001
NM_000360.4(TH):c.1146C>T (p.Asn382=) rs202090361 0.00001
NM_000360.4(TH):c.1149G>A (p.Gly383=) rs758398302 0.00001
NM_000360.4(TH):c.1191G>A (p.Gly397=) rs545937773 0.00001
NM_000360.4(TH):c.1197C>T (p.Leu399=) rs762263415 0.00001
NM_000360.4(TH):c.1200+7G>A rs1463979447 0.00001
NM_000360.4(TH):c.1201-16A>G rs201228560 0.00001
NM_000360.4(TH):c.1209G>A (p.Leu403=) rs1255096793 0.00001
NM_000360.4(TH):c.1233C>T (p.Ala411=) rs768695630 0.00001
NM_000360.4(TH):c.1251G>A (p.Ala417=) rs774769978 0.00001
NM_000360.4(TH):c.1257G>A (p.Val419=) rs1299170832 0.00001
NM_000360.4(TH):c.1290C>T (p.Val430=) rs367962981 0.00001
NM_000360.4(TH):c.1332C>T (p.Leu444=) rs534572182 0.00001
NM_000360.4(TH):c.1334+9G>A rs758713265 0.00001
NM_000360.4(TH):c.1335-14G>A rs754310603 0.00001
NM_000360.4(TH):c.1464C>A (p.Thr488=) rs1245346478 0.00001
NM_000360.4(TH):c.150G>A (p.Glu50=) rs763790386 0.00001
NM_000360.4(TH):c.15C>T (p.Asp5=) rs562609508 0.00001
NM_000360.4(TH):c.168G>A (p.Ala56=) rs776640286 0.00001
NM_000360.4(TH):c.195G>A (p.Gly65=) rs145628270 0.00001
NM_000360.4(TH):c.204G>A (p.Leu68=) rs1378296581 0.00001
NM_000360.4(TH):c.285G>A (p.Ala95=) rs749856378 0.00001
NM_000360.4(TH):c.303G>A (p.Lys101=) rs752339418 0.00001
NM_000360.4(TH):c.30G>A (p.Gln10=) rs980737617 0.00001
NM_000360.4(TH):c.315G>A (p.Thr105=) rs778507389 0.00001
NM_000360.4(TH):c.378C>T (p.Pro126=) rs779782825 0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=) rs1239693053 0.00001
NM_000360.4(TH):c.402C>T (p.Leu134=) rs759914498 0.00001
NM_000360.4(TH):c.447C>A (p.Arg149=) rs1288293766 0.00001
NM_000360.4(TH):c.462C>T (p.Asp154=) rs76831425 0.00001
NM_000360.4(TH):c.474C>T (p.Pro158=) rs531554933 0.00001
NM_000360.4(TH):c.477G>A (p.Ala159=) rs1217513263 0.00001
NM_000360.4(TH):c.487+14C>G rs1298714018 0.00001
NM_000360.4(TH):c.558C>T (p.Asp186=) rs781341540 0.00001
NM_000360.4(TH):c.576+10G>A rs775488025 0.00001
NM_000360.4(TH):c.582C>A (p.Phe194Leu) rs555133070 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.636G>A (p.Gln212=) rs752607225 0.00001
NM_000360.4(TH):c.644+10C>T rs760886341 0.00001
NM_000360.4(TH):c.644+20G>A rs745379902 0.00001
NM_000360.4(TH):c.644+8G>A rs776723483 0.00001
NM_000360.4(TH):c.644+8G>C rs776723483 0.00001
NM_000360.4(TH):c.645-18C>T rs762094071 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000360.4(TH):c.675C>T (p.Thr225=) rs1437906953 0.00001
NM_000360.4(TH):c.695+11C>T rs993765578 0.00001
NM_000360.4(TH):c.696-5C>T rs755960694 0.00001
NM_000360.4(TH):c.723C>A (p.Gly241=) rs752953358 0.00001
NM_000360.4(TH):c.738C>T (p.His246=) rs761504134 0.00001
NM_000360.4(TH):c.769T>C (p.Leu257=) rs138787428 0.00001
NM_000360.4(TH):c.786C>T (p.Ser262=) rs753109309 0.00001
NM_000360.4(TH):c.828C>G (p.Ser276=) rs747123916 0.00001
NM_000360.4(TH):c.841+12C>T rs368489295 0.00001
NM_000360.4(TH):c.841+15G>C rs1289211521 0.00001
NM_000360.4(TH):c.842-6T>C rs1363004689 0.00001
NM_000360.4(TH):c.849G>A (p.Thr283=) rs892319076 0.00001
NM_000360.4(TH):c.873C>T (p.Ala291=) rs1176834491 0.00001
NM_000360.4(TH):c.885C>T (p.Ser295=) rs772023928 0.00001
NM_000360.4(TH):c.894C>T (p.Asp298=) rs1003880422 0.00001
NM_000360.4(TH):c.90+22C>G rs753296112 0.00001
NM_000360.4(TH):c.90+27G>A rs1343146453 0.00001
NM_000360.4(TH):c.91-17G>A rs1198598913 0.00001
NM_000360.4(TH):c.91-800T>C rs1234803833 0.00001
NM_000360.4(TH):c.91-821A>C rs1338821407 0.00001
NM_000360.4(TH):c.954C>T (p.Ser318=) rs1462093961 0.00001
NM_000360.4(TH):c.96G>A (p.Pro32=) rs202167640 0.00001
NM_000360.4(TH):c.977+9G>C rs752199740 0.00001
NM_000360.4(TH):c.978-6G>T rs75487597 0.00001
NM_000360.4(TH):c.981C>T (p.Asp327=) rs947297093 0.00001
NM_000360.4(TH):c.990C>T (p.His330=) rs760420202 0.00001
NM_000360.4(TH):c.996G>A (p.Leu332=) rs750185526 0.00001
NM_000360.4(TH):c.996G>T (p.Leu332=) rs750185526 0.00001
NM_000360.4(TH):c.1008G>A (p.Val336=) rs1450148544
NM_000360.4(TH):c.1011C>T (p.Pro337=)
NM_000360.4(TH):c.1029C>T (p.Thr343=) rs1590166863
NM_000360.4(TH):c.1032C>T (p.Phe344=) rs763198914
NM_000360.4(TH):c.1041C>T (p.Phe347=) rs1318529339
NM_000360.4(TH):c.1044G>A (p.Ser348=)
NM_000360.4(TH):c.1044G>T (p.Ser348=)
NM_000360.4(TH):c.1047+13C>A
NM_000360.4(TH):c.1047+15C>T
NM_000360.4(TH):c.1047+17G>A
NM_000360.4(TH):c.1048-109G>A rs544883336
NM_000360.4(TH):c.1048-13C>A
NM_000360.4(TH):c.1048-13C>T
NM_000360.4(TH):c.1048-16C>A
NM_000360.4(TH):c.1048-20T>C
NM_000360.4(TH):c.1048-20_1048-14dup
NM_000360.4(TH):c.1048-4A>G rs2133691226
NM_000360.4(TH):c.1048-5C>T
NM_000360.4(TH):c.1048-8C>A rs2133691242
NM_000360.4(TH):c.1057C>T (p.Leu353=)
NM_000360.4(TH):c.1062G>T (p.Ala354=) rs775488051
NM_000360.4(TH):c.1068G>A (p.Leu356=)
NM_000360.4(TH):c.1068G>T (p.Leu356=)
NM_000360.4(TH):c.1071G>A (p.Gly357=)
NM_000360.4(TH):c.1071G>C (p.Gly357=) rs900683141
NM_000360.4(TH):c.1077G>C (p.Ser359=) rs759797905
NM_000360.4(TH):c.1077G>T (p.Ser359=)
NM_000360.4(TH):c.108G>T (p.Gly36=) rs372002058
NM_000360.4(TH):c.1092G>A (p.Glu364=) rs2133691065
NM_000360.4(TH):c.1096C>T (p.Leu366=)
NM_000360.4(TH):c.1101C>A (p.Ser367=) rs2133691038
NM_000360.4(TH):c.1104+10C>A
NM_000360.4(TH):c.1104+11C>G
NM_000360.4(TH):c.1104+15C>T
NM_000360.4(TH):c.1104+19G>T
NM_000360.4(TH):c.1104+9A>T rs1590166246
NM_000360.4(TH):c.1105-11C>G
NM_000360.4(TH):c.1105-14C>G
NM_000360.4(TH):c.1105-17G>T
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1105-5C>T rs535794692
NM_000360.4(TH):c.1105-6C>T
NM_000360.4(TH):c.1105-8C>T
NM_000360.4(TH):c.1116C>T (p.Phe372=)
NM_000360.4(TH):c.1119G>A (p.Thr373=) rs143405115
NM_000360.4(TH):c.1119G>C (p.Thr373=) rs143405115
NM_000360.4(TH):c.111C>T (p.Arg37=) rs2133700128
NM_000360.4(TH):c.1131G>A (p.Gly377=)
NM_000360.4(TH):c.1149G>C (p.Gly383=) rs758398302
NM_000360.4(TH):c.1152G>A (p.Glu384=)
NM_000360.4(TH):c.1155G>A (p.Val385=)
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1170C>T (p.Ala390=) rs199839852
NM_000360.4(TH):c.1174C>T (p.Leu392=) rs2133690244
NM_000360.4(TH):c.1182C>A (p.Ser394=)
NM_000360.4(TH):c.1182C>G (p.Ser394=) rs1590165799
NM_000360.4(TH):c.1188C>T (p.Tyr396=) rs375428556
NM_000360.4(TH):c.1194G>A (p.Glu398=)
NM_000360.4(TH):c.1200+7G>T rs1463979447
NM_000360.4(TH):c.1200+8T>A rs371162830
NM_000360.4(TH):c.1200+8T>C rs371162830
NM_000360.4(TH):c.1200+9C>G rs11564717
NM_000360.4(TH):c.1201-10C>A rs779826328
NM_000360.4(TH):c.1201-10C>G rs779826328
NM_000360.4(TH):c.1201-10C>T rs779826328
NM_000360.4(TH):c.1201-4C>A
NM_000360.4(TH):c.1201-4C>G
NM_000360.4(TH):c.1201-75G>A rs116831738
NM_000360.4(TH):c.1201-8C>T rs751808349
NM_000360.4(TH):c.1201-8_1201-6del rs2133689342
NM_000360.4(TH):c.1203C>T (p.His401=) rs764678799
NM_000360.4(TH):c.1209G>C (p.Leu403=)
NM_000360.4(TH):c.120C>T (p.Ser40=) rs766048900
NM_000360.4(TH):c.1215G>A (p.Glu405=) rs1590165298
NM_000360.4(TH):c.1218G>A (p.Glu406=) rs2133689255
NM_000360.4(TH):c.1224G>A (p.Glu408=) rs1037422057
NM_000360.4(TH):c.1227T>C (p.Ile409=) rs546226132
NM_000360.4(TH):c.1239C>T (p.Asp413=) rs2133689129
NM_000360.4(TH):c.123C>T (p.Leu41=) rs2133700103
NM_000360.4(TH):c.1242T>C (p.Pro414=)
NM_000360.4(TH):c.1245G>A (p.Glu415=)
NM_000360.4(TH):c.1260G>A (p.Gln420=)
NM_000360.4(TH):c.126C>T (p.Ile42=) rs755664117
NM_000360.4(TH):c.1272C>T (p.Asp424=) rs2133689008
NM_000360.4(TH):c.1278G>T (p.Thr426=)
NM_000360.4(TH):c.1287A>C (p.Ser429=) rs1590165106
NM_000360.4(TH):c.1290C>G (p.Val430=) rs367962981
NM_000360.4(TH):c.12C>A (p.Pro4=) rs147131010
NM_000360.4(TH):c.1308C>T (p.Ser436=) rs2133688882
NM_000360.4(TH):c.1326C>T (p.Asp442=) rs1262220896
NM_000360.4(TH):c.1334+10G>A rs2133688753
NM_000360.4(TH):c.1334+10G>C
NM_000360.4(TH):c.1334+11C>A
NM_000360.4(TH):c.1334+16A>C
NM_000360.4(TH):c.1334+20C>A
NM_000360.4(TH):c.1334+303C>T rs3842722
NM_000360.4(TH):c.1334+7T>C
NM_000360.4(TH):c.1334+9G>C rs758713265
NM_000360.4(TH):c.1335-11C>A rs756737351
NM_000360.4(TH):c.1335-11C>G
NM_000360.4(TH):c.1335-13C>T rs1846025725
NM_000360.4(TH):c.1335-15C>T
NM_000360.4(TH):c.1335-18T>A
NM_000360.4(TH):c.1335-19C>G
NM_000360.4(TH):c.1335-6C>T
NM_000360.4(TH):c.1341T>C (p.Tyr447=) rs1442860813
NM_000360.4(TH):c.1344C>T (p.Ala448=)
NM_000360.4(TH):c.1347A>C (p.Ser449=) rs2133686969
NM_000360.4(TH):c.1350C>A (p.Arg450=) rs1590164188
NM_000360.4(TH):c.1353C>T (p.Ile451=)
NM_000360.4(TH):c.1359C>T (p.Arg453=) rs2133686922
NM_000360.4(TH):c.135C>T (p.Ala45=) rs1488262765
NM_000360.4(TH):c.1383G>C (p.Pro461=)
NM_000360.4(TH):c.1389G>T (p.Thr463=) rs370029424
NM_000360.4(TH):c.138C>A (p.Arg46=)
NM_000360.4(TH):c.1390C>T (p.Leu464=) rs777421313
NM_000360.4(TH):c.1404G>C (p.Val468=) rs2133686744
NM_000360.4(TH):c.1407G>A (p.Leu469=)
NM_000360.4(TH):c.1410C>T (p.Asp470=) rs1846020769
NM_000360.4(TH):c.1416C>T (p.Pro472=)
NM_000360.4(TH):c.1428G>A (p.Arg476=) rs2133686644
NM_000360.4(TH):c.1428G>C (p.Arg476=)
NM_000360.4(TH):c.1435C>T (p.Leu479=) rs2133686613
NM_000360.4(TH):c.1437G>A (p.Leu479=)
NM_000360.4(TH):c.1442G>A (p.Gly481Asp) rs564949885
NM_000360.4(TH):c.1449G>A (p.Gln483=) rs1846018715
NM_000360.4(TH):c.1458G>A (p.Leu486=)
NM_000360.4(TH):c.1461C>T (p.Asp487=) rs2133686512
NM_000360.4(TH):c.1473T>C (p.His491=) rs2133686471
NM_000360.4(TH):c.1476G>T (p.Ala492=)
NM_000360.4(TH):c.1479G>A (p.Leu493=)
NM_000360.4(TH):c.156G>A (p.Ala52=) rs769897682
NM_000360.4(TH):c.156G>T (p.Ala52=) rs769897682
NM_000360.4(TH):c.165A>G (p.Ala55=) rs2133699994
NM_000360.4(TH):c.174T>A (p.Ala58=) rs2133699946
NM_000360.4(TH):c.177A>T (p.Ala59=)
NM_000360.4(TH):c.183C>T (p.Pro61=)
NM_000360.4(TH):c.18C>A (p.Ala6=)
NM_000360.4(TH):c.198C>T (p.Asp66=)
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.207G>A (p.Glu69=) rs2133699832
NM_000360.4(TH):c.21C>A (p.Thr7=) rs2133704280
NM_000360.4(TH):c.231G>A (p.Glu77=) rs2133699752
NM_000360.4(TH):c.237G>A (p.Lys79=)
NM_000360.4(TH):c.255C>T (p.Leu85=) rs2133699675
NM_000360.4(TH):c.279C>G (p.Pro93=)
NM_000360.4(TH):c.282G>A (p.Ser94=) rs75348531
NM_000360.4(TH):c.282G>C (p.Ser94=) rs75348531
NM_000360.4(TH):c.282G>T (p.Ser94=)
NM_000360.4(TH):c.312+10T>C rs2133699465
NM_000360.4(TH):c.312+11G>T
NM_000360.4(TH):c.312+12G>A
NM_000360.4(TH):c.312+13C>A
NM_000360.4(TH):c.312+18G>A
NM_000360.4(TH):c.312+19T>G
NM_000360.4(TH):c.313-10G>A
NM_000360.4(TH):c.313-12T>C
NM_000360.4(TH):c.313-13T>C
NM_000360.4(TH):c.313-18C>G
NM_000360.4(TH):c.313-38_313-35del rs200462975
NM_000360.4(TH):c.313-8T>C
NM_000360.4(TH):c.318T>C (p.Phe106=)
NM_000360.4(TH):c.333C>T (p.His111=) rs2133697797
NM_000360.4(TH):c.339A>G (p.Leu113=)
NM_000360.4(TH):c.342G>A (p.Glu114=) rs886038763
NM_000360.4(TH):c.345C>G (p.Thr115=) rs1590169970
NM_000360.4(TH):c.346C>A (p.Arg116=) rs571368528
NM_000360.4(TH):c.348G>A (p.Arg116=) rs1590169952
NM_000360.4(TH):c.357G>A (p.Gln119=)
NM_000360.4(TH):c.364C>A (p.Arg122=) rs771610752
NM_000360.4(TH):c.369T>G (p.Ala123=) rs2133697665
NM_000360.4(TH):c.375C>G (p.Gly125=) rs2133697637
NM_000360.4(TH):c.378C>A (p.Pro126=) rs779782825
NM_000360.4(TH):c.382C>T (p.Leu128=) rs2133697620
NM_000360.4(TH):c.384G>A (p.Leu128=) rs2133697614
NM_000360.4(TH):c.390C>T (p.Tyr130=)
NM_000360.4(TH):c.399C>T (p.Arg133=)
NM_000360.4(TH):c.39C>T (p.Gly13=)
NM_000360.4(TH):c.408G>A (p.Val136=) rs1846166191
NM_000360.4(TH):c.414A>G (p.Arg138=) rs528105731
NM_000360.4(TH):c.417G>A (p.Gly139=) rs1846165575
NM_000360.4(TH):c.417G>C (p.Gly139=)
NM_000360.4(TH):c.423G>C (p.Leu141=)
NM_000360.4(TH):c.432G>C (p.Leu144=) rs2133697405
NM_000360.4(TH):c.432G>T (p.Leu144=) rs2133697405
NM_000360.4(TH):c.447C>T (p.Arg149=)
NM_000360.4(TH):c.45C>T (p.Arg15=)
NM_000360.4(TH):c.480G>A (p.Gly160=)
NM_000360.4(TH):c.487+18C>G
NM_000360.4(TH):c.487+7C>T
NM_000360.4(TH):c.487+8G>T rs749511812
NM_000360.4(TH):c.487+9G>T rs2133697188
NM_000360.4(TH):c.488-11C>T
NM_000360.4(TH):c.488-14C>T
NM_000360.4(TH):c.488-5T>C rs1846153668
NM_000360.4(TH):c.489C>A (p.Val163=)
NM_000360.4(TH):c.510G>T (p.Val170=) rs2133696498
NM_000360.4(TH):c.513A>G (p.Ser171=) rs773094935
NM_000360.4(TH):c.517C>T (p.Leu173=)
NM_000360.4(TH):c.519G>A (p.Leu173=) rs2133696466
NM_000360.4(TH):c.51C>G (p.Ala17=) rs199645400
NM_000360.4(TH):c.522C>T (p.Asp174=)
NM_000360.4(TH):c.525G>A (p.Lys175=)
NM_000360.4(TH):c.535C>T (p.Leu179=) rs547467882
NM_000360.4(TH):c.543C>A (p.Thr181=) rs2133696399
NM_000360.4(TH):c.546G>A (p.Lys182=) rs2133696386
NM_000360.4(TH):c.559C>T (p.Leu187=) rs2133696352
NM_000360.4(TH):c.564C>T (p.Asp188=)
NM_000360.4(TH):c.576+11C>G
NM_000360.4(TH):c.576+18C>T
NM_000360.4(TH):c.576+7G>C
NM_000360.4(TH):c.576+8G>A rs372753775
NM_000360.4(TH):c.576+8G>T rs372753775
NM_000360.4(TH):c.577-10C>G
NM_000360.4(TH):c.577-10C>T rs2133695865
NM_000360.4(TH):c.577-12C>T
NM_000360.4(TH):c.577-13C>T rs1846146910
NM_000360.4(TH):c.577-15C>T
NM_000360.4(TH):c.577-19G>A
NM_000360.4(TH):c.577-6C>T
NM_000360.4(TH):c.577-7C>T rs2133695862
NM_000360.4(TH):c.579C>A (p.Gly193=) rs147852210
NM_000360.4(TH):c.57T>C (p.Ser19=)
NM_000360.4(TH):c.585G>C (p.Ser195=) rs376615793
NM_000360.4(TH):c.597C>T (p.Tyr199=)
NM_000360.4(TH):c.609G>A (p.Arg203=)
NM_000360.4(TH):c.613C>T (p.Leu205=) rs1846144092
NM_000360.4(TH):c.627C>T (p.Ile209=) rs202149985
NM_000360.4(TH):c.630C>T (p.Ala210=) rs2133695646
NM_000360.4(TH):c.63G>A (p.Leu21=) rs2133704145
NM_000360.4(TH):c.642G>A (p.Arg214=) rs139579396
NM_000360.4(TH):c.644+15C>G rs191712999
NM_000360.4(TH):c.644+16G>A
NM_000360.4(TH):c.644+8G>T
NM_000360.4(TH):c.644+9C>T rs766524314
NM_000360.4(TH):c.645-11C>T
NM_000360.4(TH):c.645-15T>C
NM_000360.4(TH):c.654G>A (p.Pro218=) rs1489723629
NM_000360.4(TH):c.660C>G (p.Pro220=) rs1292625376
NM_000360.4(TH):c.663T>A (p.Arg221=)
NM_000360.4(TH):c.669G>A (p.Glu223=) rs2133694789
NM_000360.4(TH):c.672C>T (p.Tyr224=) rs1554923218
NM_000360.4(TH):c.678C>A (p.Ala226=)
NM_000360.4(TH):c.678C>G (p.Ala226=) rs139619260
NM_000360.4(TH):c.695+11C>A
NM_000360.4(TH):c.695+11C>G
NM_000360.4(TH):c.695+12G>A rs757808045
NM_000360.4(TH):c.695+12G>C rs757808045
NM_000360.4(TH):c.695+15C>A rs767877866
NM_000360.4(TH):c.695+20A>G
NM_000360.4(TH):c.695+8C>T rs2133694676
NM_000360.4(TH):c.696-10C>G
NM_000360.4(TH):c.696-14C>T
NM_000360.4(TH):c.696-15C>A
NM_000360.4(TH):c.696-3C>T rs1846117358
NM_000360.4(TH):c.696-4G>A rs750548460
NM_000360.4(TH):c.696-4G>T rs750548460
NM_000360.4(TH):c.696-8_696-7delinsCT rs2133693922
NM_000360.4(TH):c.69C>T (p.Ala23=) rs2133704123
NM_000360.4(TH):c.6C>T (p.Pro2=)
NM_000360.4(TH):c.702G>A (p.Glu234=) rs1324380637
NM_000360.4(TH):c.714G>C (p.Thr238=) rs747783772
NM_000360.4(TH):c.717G>A (p.Leu239=) rs2133693841
NM_000360.4(TH):c.723C>T (p.Gly241=)
NM_000360.4(TH):c.732C>T (p.Ala244=) rs1846114858
NM_000360.4(TH):c.744C>T (p.Cys248=)
NM_000360.4(TH):c.747G>A (p.Gly249=) rs2133693705
NM_000360.4(TH):c.756G>C (p.Leu252=) rs1381505844
NM_000360.4(TH):c.759G>A (p.Glu253=) rs769914766
NM_000360.4(TH):c.75G>A (p.Gln25=) rs2133704107
NM_000360.4(TH):c.762C>T (p.Ala254=)
NM_000360.4(TH):c.777G>A (p.Glu259=)
NM_000360.4(TH):c.78A>G (p.Ala26=) rs2133704085
NM_000360.4(TH):c.795G>C (p.Arg265=)
NM_000360.4(TH):c.795G>T (p.Arg265=) rs773688571
NM_000360.4(TH):c.804T>C (p.Asn268=) rs1312460384
NM_000360.4(TH):c.807C>A (p.Ile269=) rs763824588
NM_000360.4(TH):c.807C>T (p.Ile269=) rs763824588
NM_000360.4(TH):c.810C>G (p.Pro270=) rs1846110224
NM_000360.4(TH):c.810C>T (p.Pro270=) rs1846110224
NM_000360.4(TH):c.816G>A (p.Leu272=)
NM_000360.4(TH):c.81G>A (p.Glu27=) rs139742336
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000360.4(TH):c.822C>T (p.Asp274=) rs776737582
NM_000360.4(TH):c.825C>T (p.Val275=) rs1384915680
NM_000360.4(TH):c.831C>G (p.Arg277=) rs1408483848
NM_000360.4(TH):c.841+13G>C
NM_000360.4(TH):c.841+14G>C
NM_000360.4(TH):c.841+18G>A
NM_000360.4(TH):c.841+8C>G
NM_000360.4(TH):c.841+9A>G rs2133693348
NM_000360.4(TH):c.842-12G>A rs1009338117
NM_000360.4(TH):c.842-16G>C
NM_000360.4(TH):c.842-38C>G
NM_000360.4(TH):c.842-7C>G
NM_000360.4(TH):c.842-7C>T
NM_000360.4(TH):c.842-9C>G
NM_000360.4(TH):c.849G>C (p.Thr283=) rs892319076
NM_000360.4(TH):c.858G>A (p.Gln286=)
NM_000360.4(TH):c.864G>A (p.Arg288=)
NM_000360.4(TH):c.864G>C (p.Arg288=) rs2133692970
NM_000360.4(TH):c.867T>A (p.Pro289=) rs2133692968
NM_000360.4(TH):c.873C>G (p.Ala291=) rs1176834491
NM_000360.4(TH):c.876C>T (p.Gly292=)
NM_000360.4(TH):c.885C>A (p.Ser295=)
NM_000360.4(TH):c.891G>A (p.Arg297=) rs1184382907
NM_000360.4(TH):c.90+20C>A
NM_000360.4(TH):c.90+21C>T
NM_000360.4(TH):c.90+22C>A
NM_000360.4(TH):c.90+22C>T rs753296112
NM_000360.4(TH):c.90+25C>G
NM_000360.4(TH):c.90+25C>T
NM_000360.4(TH):c.90+26G>A rs191356744
NM_000360.4(TH):c.90+30G>T
NM_000360.4(TH):c.90+913C>G
NM_000360.4(TH):c.90+9G>A
NM_000360.4(TH):c.90+9G>T
NM_000360.4(TH):c.900G>C (p.Leu300=)
NM_000360.4(TH):c.907C>T (p.Leu303=) rs1229760285
NM_000360.4(TH):c.909G>A (p.Leu303=)
NM_000360.4(TH):c.909G>C (p.Leu303=)
NM_000360.4(TH):c.91-10G>T
NM_000360.4(TH):c.91-13C>T
NM_000360.4(TH):c.91-16C>T rs2133700285
NM_000360.4(TH):c.91-19G>A
NM_000360.4(TH):c.91-4A>C rs2133700257
NM_000360.4(TH):c.91-5C>T
NM_000360.4(TH):c.91-732C>T rs75888017
NM_000360.4(TH):c.91-801C>T
NM_000360.4(TH):c.91-806_91-805del
NM_000360.4(TH):c.91-810G>A
NM_000360.4(TH):c.91-810G>C
NM_000360.4(TH):c.91-822A>G rs1023369939
NM_000360.4(TH):c.91-831C>T rs2133701838
NM_000360.4(TH):c.91-840A>G
NM_000360.4(TH):c.91-849C>T
NM_000360.4(TH):c.91-870T>C rs748155087
NM_000360.4(TH):c.91-873C>A rs771992434
NM_000360.4(TH):c.91-882C>T
NM_000360.4(TH):c.91-885C>T
NM_000360.4(TH):c.91-888G>A rs1227673897
NM_000360.4(TH):c.91-897C>A
NM_000360.4(TH):c.91-897C>G rs762373165
NM_000360.4(TH):c.91-8C>T rs1490379030
NM_000360.4(TH):c.91-903C>A rs1036726742
NM_000360.4(TH):c.91-904C>T rs1590172417
NM_000360.4(TH):c.91-907C>T
NM_000360.4(TH):c.912C>T (p.Ala304=) rs1590167156
NM_000360.4(TH):c.933C>G (p.Thr311=)
NM_000360.4(TH):c.933C>T (p.Thr311=)
NM_000360.4(TH):c.93C>T (p.Ser31=) rs1217960145
NM_000360.4(TH):c.942C>T (p.Ile314=)
NM_000360.4(TH):c.948C>T (p.His316=)
NM_000360.4(TH):c.951G>A (p.Ala317=) rs1590167106
NM_000360.4(TH):c.957G>A (p.Ser319=)
NM_000360.4(TH):c.960C>A (p.Pro320=) rs1846099712
NM_000360.4(TH):c.960C>T (p.Pro320=)
NM_000360.4(TH):c.969C>T (p.Ser323=) rs2133692653
NM_000360.4(TH):c.96G>C (p.Pro32=) rs202167640
NM_000360.4(TH):c.977+11G>C
NM_000360.4(TH):c.977+11G>T
NM_000360.4(TH):c.977+13C>A
NM_000360.4(TH):c.977+13C>G
NM_000360.4(TH):c.977+16G>A
NM_000360.4(TH):c.977+18C>A rs753752531
NM_000360.4(TH):c.977+20G>A
NM_000360.4(TH):c.977+20G>C
NM_000360.4(TH):c.978-11C>T
NM_000360.4(TH):c.978-13C>G
NM_000360.4(TH):c.978-14C>T rs781570336
NM_000360.4(TH):c.978-15C>G
NM_000360.4(TH):c.978-20C>T
NM_000360.4(TH):c.978-4G>C
NM_000360.4(TH):c.978-4G>T rs1422368520
NM_000360.4(TH):c.978-5C>T rs1337547432
NM_000360.4(TH):c.978-6G>A rs75487597
NM_000360.4(TH):c.978-8A>C rs1846096199
NM_000360.4(TH):c.993G>A (p.Glu331=) rs2133692335
NM_000360.4(TH):c.997C>T (p.Leu333=) rs2133692317
NM_000360.4(TH):c.9C>G (p.Thr3=) rs1419519961

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.