ClinVar Miner

List of variants reported as uncertain significance for Jeune thoracic dystrophy; Nephronophthisis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 423
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812 0.00118
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) rs139327086 0.00056
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) rs142887208 0.00024
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val) rs371940683 0.00017
NM_024753.5(TTC21B):c.2549C>T (p.Ala850Val) rs199795649 0.00017
NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp) rs367690496 0.00017
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp) rs371376632 0.00014
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly) rs200916501 0.00010
NM_024753.5(TTC21B):c.1195T>C (p.Tyr399His) rs187985767 0.00009
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789 0.00009
NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg) rs137926033 0.00009
NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys) rs377393152 0.00009
NM_024753.5(TTC21B):c.234A>G (p.Ile78Met) rs139885689 0.00008
NM_024753.5(TTC21B):c.795+3A>G rs753275145 0.00008
NM_024753.5(TTC21B):c.1528G>C (p.Ala510Pro) rs200505317 0.00006
NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser) rs200137653 0.00006
NM_024753.5(TTC21B):c.179T>A (p.Phe60Tyr) rs371571631 0.00006
NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile) rs762535321 0.00006
NM_024753.5(TTC21B):c.2230G>C (p.Ala744Pro) rs150783918 0.00006
NM_024753.5(TTC21B):c.2305A>T (p.Thr769Ser) rs373564710 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.5(TTC21B):c.455A>C (p.Asp152Ala) rs145726127 0.00006
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg) rs769057187 0.00006
NM_024753.5(TTC21B):c.667C>G (p.Leu223Val) rs370860586 0.00006
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619 0.00006
NM_024753.5(TTC21B):c.1427G>A (p.Arg476His) rs767963660 0.00005
NM_024753.5(TTC21B):c.2224A>G (p.Ile742Val) rs147222434 0.00005
NM_024753.5(TTC21B):c.250A>G (p.Ser84Gly) rs763267081 0.00005
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys) rs757730050 0.00005
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His) rs377009251 0.00004
NM_024753.5(TTC21B):c.1768A>G (p.Met590Val) rs777733112 0.00004
NM_024753.5(TTC21B):c.1847G>A (p.Arg616His) rs780307963 0.00004
NM_024753.5(TTC21B):c.1963C>T (p.Arg655Trp) rs138937289 0.00004
NM_024753.5(TTC21B):c.1964G>A (p.Arg655Gln) rs748141161 0.00004
NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys) rs370846838 0.00004
NM_024753.5(TTC21B):c.3182A>G (p.Tyr1061Cys) rs200280772 0.00004
NM_024753.5(TTC21B):c.3556A>G (p.Met1186Val) rs376308209 0.00004
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val) rs373353875 0.00004
NM_024753.5(TTC21B):c.367C>T (p.Arg123Cys) rs775370323 0.00004
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln) rs201495700 0.00004
NM_024753.5(TTC21B):c.569T>A (p.Met190Lys) rs200374808 0.00004
NM_024753.5(TTC21B):c.616G>A (p.Val206Met) rs370956667 0.00004
NM_024753.5(TTC21B):c.796-3T>C rs794727932 0.00004
NM_024753.5(TTC21B):c.1358T>A (p.Met453Lys) rs373845234 0.00003
NM_024753.5(TTC21B):c.1535T>C (p.Phe512Ser) rs371583620 0.00003
NM_024753.5(TTC21B):c.1798G>T (p.Ala600Ser) rs369672356 0.00003
NM_024753.5(TTC21B):c.2165C>G (p.Pro722Arg) rs760571843 0.00003
NM_024753.5(TTC21B):c.2966T>C (p.Leu989Ser) rs552766355 0.00003
NM_024753.5(TTC21B):c.2971C>T (p.Arg991Cys) rs367876567 0.00003
NM_024753.5(TTC21B):c.308G>A (p.Arg103His) rs774327753 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.3640G>A (p.Asp1214Asn) rs554851165 0.00003
NM_024753.5(TTC21B):c.3806-3C>T rs764138635 0.00003
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093 0.00003
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys) rs200605660 0.00003
NM_024753.5(TTC21B):c.62A>G (p.His21Arg) rs757283243 0.00003
NM_024753.5(TTC21B):c.1357A>G (p.Met453Val) rs754773733 0.00002
NM_024753.5(TTC21B):c.151+4C>T rs370743264 0.00002
NM_024753.5(TTC21B):c.1516+6G>A rs374229097 0.00002
NM_024753.5(TTC21B):c.152G>A (p.Gly51Asp) rs768073526 0.00002
NM_024753.5(TTC21B):c.1747A>G (p.Ile583Val) rs745801155 0.00002
NM_024753.5(TTC21B):c.1757T>C (p.Leu586Pro) rs757261493 0.00002
NM_024753.5(TTC21B):c.1760A>G (p.His587Arg) rs372066887 0.00002
NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala) rs769276420 0.00002
NM_024753.5(TTC21B):c.1853C>T (p.Ser618Leu) rs749287796 0.00002
NM_024753.5(TTC21B):c.2170T>A (p.Ser724Thr) rs759317777 0.00002
NM_024753.5(TTC21B):c.2365A>G (p.Asn789Asp) rs774676050 0.00002
NM_024753.5(TTC21B):c.2495G>A (p.Arg832His) rs145412117 0.00002
NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys) rs574803644 0.00002
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys) rs760729865 0.00002
NM_024753.5(TTC21B):c.3102-4C>G rs750756355 0.00002
NM_024753.5(TTC21B):c.3406A>G (p.Lys1136Glu) rs371863532 0.00002
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) rs367564721 0.00002
NM_024753.5(TTC21B):c.3493A>G (p.Thr1165Ala) rs762419505 0.00002
NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr) rs776721597 0.00002
NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr) rs374240595 0.00002
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser) rs189519760 0.00002
NM_024753.5(TTC21B):c.557A>G (p.Gln186Arg) rs938051900 0.00002
NM_024753.5(TTC21B):c.711G>T (p.Arg237Ser) rs764523560 0.00002
NM_024753.5(TTC21B):c.764A>G (p.Tyr255Cys) rs377061787 0.00002
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys) rs1372232699 0.00002
NM_024753.5(TTC21B):c.1022A>C (p.Lys341Thr) rs1686837269 0.00001
NM_024753.5(TTC21B):c.105T>G (p.Ser35Arg) rs750039189 0.00001
NM_024753.5(TTC21B):c.1088-3T>C rs761658519 0.00001
NM_024753.5(TTC21B):c.117C>G (p.Phe39Leu) rs1559078793 0.00001
NM_024753.5(TTC21B):c.1186-10T>G rs1352577616 0.00001
NM_024753.5(TTC21B):c.1259A>G (p.Asn420Ser) rs1267990831 0.00001
NM_024753.5(TTC21B):c.1277A>G (p.His426Arg) rs981361200 0.00001
NM_024753.5(TTC21B):c.1301C>G (p.Pro434Arg) rs971283288 0.00001
NM_024753.5(TTC21B):c.1327C>G (p.Leu443Val) rs772177785 0.00001
NM_024753.5(TTC21B):c.1406C>G (p.Pro469Arg) rs370444625 0.00001
NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp) rs751822992 0.00001
NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe) rs948455096 0.00001
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825 0.00001
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900 0.00001
NM_024753.5(TTC21B):c.1543C>T (p.Leu515Phe) rs1246746208 0.00001
NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val) rs200916824 0.00001
NM_024753.5(TTC21B):c.1643C>G (p.Ser548Cys) rs777801181 0.00001
NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys) rs1686220039 0.00001
NM_024753.5(TTC21B):c.1687C>G (p.Pro563Ala) rs757173737 0.00001
NM_024753.5(TTC21B):c.169C>T (p.Leu57Phe) rs139392369 0.00001
NM_024753.5(TTC21B):c.1793T>C (p.Ile598Thr) rs143612688 0.00001
NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile) rs144411419 0.00001
NM_024753.5(TTC21B):c.1882C>T (p.Arg628Cys) rs367855384 0.00001
NM_024753.5(TTC21B):c.1A>G (p.Met1Val) rs1435376086 0.00001
NM_024753.5(TTC21B):c.2123A>G (p.Tyr708Cys) rs756694027 0.00001
NM_024753.5(TTC21B):c.2138G>T (p.Arg713Ile) rs781708463 0.00001
NM_024753.5(TTC21B):c.2167C>T (p.Arg723Trp) rs201500142 0.00001
NM_024753.5(TTC21B):c.226G>T (p.Ala76Ser) rs1272269691 0.00001
NM_024753.5(TTC21B):c.2324C>T (p.Ala775Val) rs753608608 0.00001
NM_024753.5(TTC21B):c.2344G>C (p.Ala782Pro) rs752254910 0.00001
NM_024753.5(TTC21B):c.2360A>G (p.Gln787Arg) rs760057103 0.00001
NM_024753.5(TTC21B):c.2416G>C (p.Asp806His) rs1685925440 0.00001
NM_024753.5(TTC21B):c.2441A>G (p.His814Arg) rs965238984 0.00001
NM_024753.5(TTC21B):c.2483T>C (p.Met828Thr) rs767841175 0.00001
NM_024753.5(TTC21B):c.2494C>T (p.Arg832Cys) rs1439121645 0.00001
NM_024753.5(TTC21B):c.2540T>C (p.Leu847Pro) rs750709791 0.00001
NM_024753.5(TTC21B):c.2572C>G (p.Arg858Gly) rs895624584 0.00001
NM_024753.5(TTC21B):c.2599C>T (p.Arg867Cys) rs746700857 0.00001
NM_024753.5(TTC21B):c.2636A>C (p.Gln879Pro) rs375464714 0.00001
NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn) rs1336338964 0.00001
NM_024753.5(TTC21B):c.2699A>G (p.Tyr900Cys) rs766007738 0.00001
NM_024753.5(TTC21B):c.2726A>T (p.Glu909Val) rs1433947584 0.00001
NM_024753.5(TTC21B):c.2734G>C (p.Val912Leu) rs756613993 0.00001
NM_024753.5(TTC21B):c.2782T>C (p.Tyr928His) rs1685493736 0.00001
NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe) rs184561530 0.00001
NM_024753.5(TTC21B):c.2866A>G (p.Met956Val) rs746138925 0.00001
NM_024753.5(TTC21B):c.2941C>T (p.Arg981Cys) rs749278599 0.00001
NM_024753.5(TTC21B):c.2961G>A (p.Met987Ile) rs778812999 0.00001
NM_024753.5(TTC21B):c.3032T>C (p.Met1011Thr) rs777427926 0.00001
NM_024753.5(TTC21B):c.3034G>A (p.Ala1012Thr) rs769459956 0.00001
NM_024753.5(TTC21B):c.3044G>A (p.Arg1015His) rs1235756793 0.00001
NM_024753.5(TTC21B):c.305A>G (p.Gln102Arg) rs748245713 0.00001
NM_024753.5(TTC21B):c.3158G>A (p.Arg1053His) rs768306526 0.00001
NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu) rs1004469692 0.00001
NM_024753.5(TTC21B):c.3265A>G (p.Asn1089Asp) rs1403922219 0.00001
NM_024753.5(TTC21B):c.3350A>C (p.Gln1117Pro) rs148631747 0.00001
NM_024753.5(TTC21B):c.3358G>A (p.Val1120Ile) rs746123823 0.00001
NM_024753.5(TTC21B):c.3383A>G (p.Tyr1128Cys) rs1685078744 0.00001
NM_024753.5(TTC21B):c.3423A>G (p.Gln1141=) rs1176724856 0.00001
NM_024753.5(TTC21B):c.3460-3T>C rs754665883 0.00001
NM_024753.5(TTC21B):c.3500A>G (p.Tyr1167Cys) rs1040877016 0.00001
NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln) rs987977269 0.00001
NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His) rs199658616 0.00001
NM_024753.5(TTC21B):c.3548T>C (p.Ile1183Thr) rs780846081 0.00001
NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val) rs754751728 0.00001
NM_024753.5(TTC21B):c.3586T>G (p.Phe1196Val) rs754307147 0.00001
NM_024753.5(TTC21B):c.3622A>G (p.Ile1208Val) rs760982788 0.00001
NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe) rs1225739712 0.00001
NM_024753.5(TTC21B):c.3674G>A (p.Arg1225His) rs1231210163 0.00001
NM_024753.5(TTC21B):c.3680A>G (p.Asn1227Ser) rs771598715 0.00001
NM_024753.5(TTC21B):c.368G>A (p.Arg123His) rs370484375 0.00001
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile) rs569067100 0.00001
NM_024753.5(TTC21B):c.3886del (p.His1296fs) rs1452582965 0.00001
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu) rs756943619 0.00001
NM_024753.5(TTC21B):c.412T>C (p.Ser138Pro) rs1315060629 0.00001
NM_024753.5(TTC21B):c.419G>A (p.Gly140Asp) rs779381150 0.00001
NM_024753.5(TTC21B):c.499T>G (p.Tyr167Asp) rs776678493 0.00001
NM_024753.5(TTC21B):c.518A>C (p.Gln173Pro) rs775266613 0.00001
NM_024753.5(TTC21B):c.51A>G (p.Arg17=) rs1242174524 0.00001
NM_024753.5(TTC21B):c.550A>G (p.Lys184Glu) rs748570902 0.00001
NM_024753.5(TTC21B):c.572G>A (p.Arg191His) rs781486283 0.00001
NM_024753.5(TTC21B):c.670G>A (p.Ala224Thr) rs1423263208 0.00001
NM_024753.5(TTC21B):c.718C>T (p.Leu240Phe) rs1338382358 0.00001
NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu) rs1364155246 0.00001
NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr) rs1217195888 0.00001
NM_024753.5(TTC21B):c.946G>T (p.Ala316Ser) rs1366178129 0.00001
NM_024753.5(TTC21B):c.985G>A (p.Glu329Lys) rs768266139 0.00001
NC_000002.11:g.(?_166731265)_(166758440_?)dup
NC_000002.11:g.(?_166746969)_(166810215_?)dup
NM_024753.5(TTC21B):c.1010A>G (p.Gln337Arg)
NM_024753.5(TTC21B):c.1040A>G (p.Tyr347Cys)
NM_024753.5(TTC21B):c.1048G>A (p.Ala350Thr) rs752711108
NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser) rs752711108
NM_024753.5(TTC21B):c.1057C>G (p.Leu353Val)
NM_024753.5(TTC21B):c.1061A>G (p.Asp354Gly) rs902487352
NM_024753.5(TTC21B):c.1067C>T (p.Thr356Ile)
NM_024753.5(TTC21B):c.1083A>G (p.Leu361=)
NM_024753.5(TTC21B):c.1087+3A>G
NM_024753.5(TTC21B):c.1103A>T (p.Gln368Leu)
NM_024753.5(TTC21B):c.1113A>T (p.Glu371Asp)
NM_024753.5(TTC21B):c.1154A>G (p.Asn385Ser)
NM_024753.5(TTC21B):c.1155T>A (p.Asn385Lys) rs2105343770
NM_024753.5(TTC21B):c.1172T>C (p.Ile391Thr)
NM_024753.5(TTC21B):c.1181C>G (p.Ser394Cys) rs748339995
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe) rs748339995
NM_024753.5(TTC21B):c.1185G>A (p.Ala395=) rs747042147
NM_024753.5(TTC21B):c.119G>A (p.Arg40Lys)
NM_024753.5(TTC21B):c.119G>C (p.Arg40Thr) rs1687700084
NM_024753.5(TTC21B):c.11A>C (p.Gln4Pro)
NM_024753.5(TTC21B):c.1201C>A (p.His401Asn) rs768881808
NM_024753.5(TTC21B):c.1202A>G (p.His401Arg) rs780159682
NM_024753.5(TTC21B):c.1218G>T (p.Met406Ile)
NM_024753.5(TTC21B):c.1222A>G (p.Lys408Glu) rs2105343236
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly) rs185089786
NM_024753.5(TTC21B):c.1232_1234del (p.Arg411del) rs768933427
NM_024753.5(TTC21B):c.1234C>G (p.Gln412Glu) rs2105343199
NM_024753.5(TTC21B):c.1240G>A (p.Glu414Lys)
NM_024753.5(TTC21B):c.1273A>G (p.Thr425Ala)
NM_024753.5(TTC21B):c.1276C>G (p.His426Asp)
NM_024753.5(TTC21B):c.1292_1294del (p.Glu431del)
NM_024753.5(TTC21B):c.1339T>G (p.Phe447Val)
NM_024753.5(TTC21B):c.1358T>G (p.Met453Arg)
NM_024753.5(TTC21B):c.1396C>T (p.Pro466Ser) rs956461172
NM_024753.5(TTC21B):c.1415C>T (p.Pro472Leu)
NM_024753.5(TTC21B):c.1432A>G (p.Ile478Val) rs948455096
NM_024753.5(TTC21B):c.1438G>A (p.Val480Ile)
NM_024753.5(TTC21B):c.1443G>A (p.Leu481=)
NM_024753.5(TTC21B):c.1490T>C (p.Leu497Pro)
NM_024753.5(TTC21B):c.1512G>T (p.Leu504Phe)
NM_024753.5(TTC21B):c.1523T>C (p.Ile508Thr) rs769248659
NM_024753.5(TTC21B):c.1537A>G (p.Asn513Asp) rs939423391
NM_024753.5(TTC21B):c.1561C>T (p.His521Tyr)
NM_024753.5(TTC21B):c.1598C>A (p.Ala533Asp)
NM_024753.5(TTC21B):c.1621A>G (p.Lys541Glu) rs2105329308
NM_024753.5(TTC21B):c.1654T>C (p.Cys552Arg)
NM_024753.5(TTC21B):c.1674G>A (p.Lys558=)
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) rs1354455514
NM_024753.5(TTC21B):c.1714T>C (p.Ser572Pro) rs2105327024
NM_024753.5(TTC21B):c.1739C>T (p.Ala580Val)
NM_024753.5(TTC21B):c.1744G>A (p.Ala582Thr) rs755056642
NM_024753.5(TTC21B):c.1756C>A (p.Leu586Met) rs1686216272
NM_024753.5(TTC21B):c.1774T>G (p.Leu592Val)
NM_024753.5(TTC21B):c.1785G>T (p.Met595Ile)
NM_024753.5(TTC21B):c.1790G>T (p.Arg597Ile)
NM_024753.5(TTC21B):c.1801T>C (p.Ser601Pro) rs1686214416
NM_024753.5(TTC21B):c.1807A>G (p.Lys603Glu)
NM_024753.5(TTC21B):c.1816G>A (p.Asp606Asn)
NM_024753.5(TTC21B):c.1832T>C (p.Val611Ala)
NM_024753.5(TTC21B):c.1836T>A (p.Asp612Glu)
NM_024753.5(TTC21B):c.187A>G (p.Ile63Val)
NM_024753.5(TTC21B):c.1883G>T (p.Arg628Leu)
NM_024753.5(TTC21B):c.1906G>A (p.Ala636Thr)
NM_024753.5(TTC21B):c.1927G>A (p.Ala643Thr)
NM_024753.5(TTC21B):c.1937A>T (p.Glu646Val) rs1376184705
NM_024753.5(TTC21B):c.1960G>A (p.Val654Met)
NM_024753.5(TTC21B):c.1972A>G (p.Ile658Val)
NM_024753.5(TTC21B):c.1972A>T (p.Ile658Phe) rs2105324307
NM_024753.5(TTC21B):c.2005G>C (p.Asp669His) rs1406594364
NM_024753.5(TTC21B):c.2009T>C (p.Ile670Thr) rs778504663
NM_024753.5(TTC21B):c.2011G>C (p.Glu671Gln)
NM_024753.5(TTC21B):c.2015G>C (p.Arg672Pro) rs756604135
NM_024753.5(TTC21B):c.2026A>G (p.Ile676Val) rs2105324144
NM_024753.5(TTC21B):c.202G>T (p.Asp68Tyr) rs1242719645
NM_024753.5(TTC21B):c.2047G>A (p.Glu683Lys)
NM_024753.5(TTC21B):c.205G>A (p.Val69Ile)
NM_024753.5(TTC21B):c.2074G>C (p.Glu692Gln) rs1686122784
NM_024753.5(TTC21B):c.2095C>G (p.Leu699Val) rs200182771
NM_024753.5(TTC21B):c.21+5_21+6insGGTGAGTG
NM_024753.5(TTC21B):c.21+9_21+10insGAGCGGGC
NM_024753.5(TTC21B):c.2101C>G (p.His701Asp)
NM_024753.5(TTC21B):c.2117T>G (p.Met706Arg) rs2105323931
NM_024753.5(TTC21B):c.2118G>A (p.Met706Ile)
NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala) rs1457311503
NM_024753.5(TTC21B):c.2135T>C (p.Phe712Ser)
NM_024753.5(TTC21B):c.2138+5G>C rs1574099823
NM_024753.5(TTC21B):c.2156T>C (p.Met719Thr) rs2105321275
NM_024753.5(TTC21B):c.2179C>T (p.Leu727Phe) rs1214420591
NM_024753.5(TTC21B):c.2180T>C (p.Leu727Pro)
NM_024753.5(TTC21B):c.2197A>G (p.Met733Val)
NM_024753.5(TTC21B):c.2211G>A (p.Glu737=)
NM_024753.5(TTC21B):c.2233T>G (p.Tyr745Asp)
NM_024753.5(TTC21B):c.223C>T (p.Leu75Phe)
NM_024753.5(TTC21B):c.2251C>G (p.Gln751Glu)
NM_024753.5(TTC21B):c.2263G>T (p.Asp755Tyr)
NM_024753.5(TTC21B):c.2288G>A (p.Gly763Asp)
NM_024753.5(TTC21B):c.2309A>G (p.His770Arg)
NM_024753.5(TTC21B):c.2323-18G>A
NM_024753.5(TTC21B):c.2357G>T (p.Gly786Val)
NM_024753.5(TTC21B):c.2360A>C (p.Gln787Pro)
NM_024753.5(TTC21B):c.2368T>C (p.Tyr790His) rs910370044
NM_024753.5(TTC21B):c.2393_2394delinsAA (p.Leu798Gln) rs2105318301
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys) rs1685925745
NM_024753.5(TTC21B):c.2414A>G (p.Tyr805Cys)
NM_024753.5(TTC21B):c.242A>C (p.His81Pro) rs1687690052
NM_024753.5(TTC21B):c.242A>G (p.His81Arg)
NM_024753.5(TTC21B):c.244A>C (p.Lys82Gln) rs774744374
NM_024753.5(TTC21B):c.2471T>G (p.Leu824Arg)
NM_024753.5(TTC21B):c.2479C>G (p.Leu827Val)
NM_024753.5(TTC21B):c.2491G>A (p.Gly831Arg)
NM_024753.5(TTC21B):c.2497T>C (p.Cys833Arg) rs1685788738
NM_024753.5(TTC21B):c.2564A>G (p.Gln855Arg) rs2105313560
NM_024753.5(TTC21B):c.2568+6C>G rs2105313543
NM_024753.5(TTC21B):c.2575G>A (p.Glu859Lys) rs2105306427
NM_024753.5(TTC21B):c.258T>G (p.Asn86Lys) rs2105370137
NM_024753.5(TTC21B):c.2590G>A (p.Val864Ile)
NM_024753.5(TTC21B):c.2599C>A (p.Arg867Ser)
NM_024753.5(TTC21B):c.259C>G (p.Pro87Ala)
NM_024753.5(TTC21B):c.262+4T>C
NM_024753.5(TTC21B):c.2627T>A (p.Val876Asp)
NM_024753.5(TTC21B):c.262G>C (p.Asp88His)
NM_024753.5(TTC21B):c.2671G>A (p.Ala891Thr)
NM_024753.5(TTC21B):c.2683G>C (p.Val895Leu)
NM_024753.5(TTC21B):c.2686G>T (p.Ala896Ser)
NM_024753.5(TTC21B):c.2687C>T (p.Ala896Val) rs768486051
NM_024753.5(TTC21B):c.2698T>C (p.Tyr900His) rs1336338964
NM_024753.5(TTC21B):c.2710A>G (p.Ile904Val)
NM_024753.5(TTC21B):c.2720A>G (p.Tyr907Cys)
NM_024753.5(TTC21B):c.2734G>A (p.Val912Ile) rs756613993
NM_024753.5(TTC21B):c.2745_2750del (p.Glu915_Thr916del) rs2105306008
NM_024753.5(TTC21B):c.2747C>G (p.Thr916Arg) rs781416133
NM_024753.5(TTC21B):c.2760T>G (p.Ile920Met)
NM_024753.5(TTC21B):c.2777G>C (p.Arg926Pro) rs747246700
NM_024753.5(TTC21B):c.2777_2791del (p.Arg926_Ala930del) rs757389950
NM_024753.5(TTC21B):c.2788G>A (p.Ala930Thr) rs1685493323
NM_024753.5(TTC21B):c.2814_2815delinsAA (p.Leu938_Arg939=) rs2105303218
NM_024753.5(TTC21B):c.2854G>A (p.Glu952Lys)
NM_024753.5(TTC21B):c.2864C>T (p.Thr955Ile) rs1443929851
NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu) rs1010771919
NM_024753.5(TTC21B):c.2886G>T (p.Met962Ile)
NM_024753.5(TTC21B):c.2920C>G (p.His974Asp) rs1254330391
NM_024753.5(TTC21B):c.2921A>G (p.His974Arg) rs1311327616
NM_024753.5(TTC21B):c.2959A>G (p.Met987Val) rs889749746
NM_024753.5(TTC21B):c.2962A>G (p.Thr988Ala)
NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser) rs995750441
NM_024753.5(TTC21B):c.2990G>A (p.Arg997Lys) rs2105292122
NM_024753.5(TTC21B):c.2993G>T (p.Arg998Ile) rs189561071
NM_024753.5(TTC21B):c.2994A>G (p.Arg998=) rs2105292113
NM_024753.5(TTC21B):c.2995T>C (p.Cys999Arg)
NM_024753.5(TTC21B):c.2996G>T (p.Cys999Phe)
NM_024753.5(TTC21B):c.2999G>A (p.Gly1000Glu)
NM_024753.5(TTC21B):c.3007G>A (p.Glu1003Lys)
NM_024753.5(TTC21B):c.3011A>T (p.Asp1004Val)
NM_024753.5(TTC21B):c.3016C>G (p.Pro1006Ala)
NM_024753.5(TTC21B):c.301G>C (p.Glu101Gln)
NM_024753.5(TTC21B):c.3038A>C (p.Glu1013Ala)
NM_024753.5(TTC21B):c.3048C>G (p.Asn1016Lys) rs1685165771
NM_024753.5(TTC21B):c.3077A>G (p.Gln1026Arg) rs753645075
NM_024753.5(TTC21B):c.3101+4A>G rs2105291943
NM_024753.5(TTC21B):c.3119A>G (p.Asn1040Ser) rs2105291721
NM_024753.5(TTC21B):c.3121G>A (p.Asp1041Asn) rs2105291718
NM_024753.5(TTC21B):c.3142A>G (p.Lys1048Glu)
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln) rs144103331
NM_024753.5(TTC21B):c.3160G>A (p.Asp1054Asn)
NM_024753.5(TTC21B):c.3167G>A (p.Gly1056Asp)
NM_024753.5(TTC21B):c.3185A>C (p.Asn1062Thr) rs1477708117
NM_024753.5(TTC21B):c.3191T>C (p.Ile1064Thr)
NM_024753.5(TTC21B):c.3195G>T (p.Glu1065Asp) rs1574070858
NM_024753.5(TTC21B):c.3217G>A (p.Glu1073Lys)
NM_024753.5(TTC21B):c.3338C>T (p.Pro1113Leu)
NM_024753.5(TTC21B):c.3344C>A (p.Thr1115Asn) rs1307274284
NM_024753.5(TTC21B):c.3350A>T (p.Gln1117Leu) rs148631747
NM_024753.5(TTC21B):c.3368G>A (p.Arg1123His)
NM_024753.5(TTC21B):c.3370A>G (p.Ile1124Val)
NM_024753.5(TTC21B):c.3448G>A (p.Ala1150Thr)
NM_024753.5(TTC21B):c.3448GCA[1] (p.Ala1151del)
NM_024753.5(TTC21B):c.3451G>A (p.Ala1151Thr)
NM_024753.5(TTC21B):c.3459+5G>T rs1380985852
NM_024753.5(TTC21B):c.3460-5del
NM_024753.5(TTC21B):c.3466C>T (p.His1156Tyr)
NM_024753.5(TTC21B):c.3467A>G (p.His1156Arg)
NM_024753.5(TTC21B):c.3475G>A (p.Ala1159Thr) rs2105284735
NM_024753.5(TTC21B):c.347T>C (p.Leu116Ser)
NM_024753.5(TTC21B):c.3487A>G (p.Met1163Val)
NM_024753.5(TTC21B):c.3488T>A (p.Met1163Lys)
NM_024753.5(TTC21B):c.3490G>A (p.Ala1164Thr) rs374018043
NM_024753.5(TTC21B):c.3505A>T (p.Ile1169Phe)
NM_024753.5(TTC21B):c.3523C>G (p.Arg1175Gly)
NM_024753.5(TTC21B):c.3536A>G (p.Gln1179Arg) rs745900529
NM_024753.5(TTC21B):c.3539T>C (p.Leu1180Pro)
NM_024753.5(TTC21B):c.3551C>G (p.Ala1184Gly)
NM_024753.5(TTC21B):c.3562T>C (p.Trp1188Arg)
NM_024753.5(TTC21B):c.3589G>C (p.Glu1197Gln)
NM_024753.5(TTC21B):c.3614A>G (p.Asp1205Gly) rs2105284491
NM_024753.5(TTC21B):c.3644T>C (p.Met1215Thr)
NM_024753.5(TTC21B):c.3665G>A (p.Arg1222Gln)
NM_024753.5(TTC21B):c.368G>T (p.Arg123Leu) rs370484375
NM_024753.5(TTC21B):c.3697G>C (p.Ala1233Pro)
NM_024753.5(TTC21B):c.3723G>A (p.Met1241Ile) rs2105281084
NM_024753.5(TTC21B):c.3740A>G (p.Tyr1247Cys)
NM_024753.5(TTC21B):c.3742A>T (p.Thr1248Ser) rs1684808847
NM_024753.5(TTC21B):c.3767T>C (p.Met1256Thr) rs2105281020
NM_024753.5(TTC21B):c.3770C>A (p.Ala1257Glu)
NM_024753.5(TTC21B):c.3782G>A (p.Ser1261Asn) rs371730439
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile) rs371730439
NM_024753.5(TTC21B):c.3802G>A (p.Val1268Ile)
NM_024753.5(TTC21B):c.3806-18T>C
NM_024753.5(TTC21B):c.3809A>G (p.Tyr1270Cys)
NM_024753.5(TTC21B):c.3843A>G (p.Arg1281=)
NM_024753.5(TTC21B):c.3857T>C (p.Ile1286Thr)
NM_024753.5(TTC21B):c.389A>C (p.Tyr130Ser)
NM_024753.5(TTC21B):c.3914A>T (p.Asp1305Val) rs147540469
NM_024753.5(TTC21B):c.3932G>T (p.Arg1311Leu) rs139327086
NM_024753.5(TTC21B):c.3935C>T (p.Ala1312Val)
NM_024753.5(TTC21B):c.3947C>T (p.Pro1316Leu) rs2105274076
NM_024753.5(TTC21B):c.407A>G (p.Lys136Arg)
NM_024753.5(TTC21B):c.40T>C (p.Cys14Arg)
NM_024753.5(TTC21B):c.40T>G (p.Cys14Gly) rs780354129
NM_024753.5(TTC21B):c.410T>C (p.Ile137Thr)
NM_024753.5(TTC21B):c.411A>G (p.Ile137Met)
NM_024753.5(TTC21B):c.422G>A (p.Ser141Asn)
NM_024753.5(TTC21B):c.429+5C>T
NM_024753.5(TTC21B):c.436G>A (p.Val146Ile) rs373074238
NM_024753.5(TTC21B):c.455A>G (p.Asp152Gly) rs145726127
NM_024753.5(TTC21B):c.484A>G (p.Lys162Glu)
NM_024753.5(TTC21B):c.497A>G (p.Lys166Arg)
NM_024753.5(TTC21B):c.49A>G (p.Arg17Gly)
NM_024753.5(TTC21B):c.52T>G (p.Tyr18Asp)
NM_024753.5(TTC21B):c.533C>G (p.Thr178Ser)
NM_024753.5(TTC21B):c.571C>T (p.Arg191Cys)
NM_024753.5(TTC21B):c.584C>T (p.Ser195Leu) rs2105360604
NM_024753.5(TTC21B):c.58C>T (p.His20Tyr) rs938432348
NM_024753.5(TTC21B):c.598A>G (p.Thr200Ala) rs1387736357
NM_024753.5(TTC21B):c.61C>A (p.His21Asn)
NM_024753.5(TTC21B):c.65T>C (p.Val22Ala)
NM_024753.5(TTC21B):c.671C>T (p.Ala224Val)
NM_024753.5(TTC21B):c.737T>C (p.Val246Ala)
NM_024753.5(TTC21B):c.755A>G (p.Gln252Arg)
NM_024753.5(TTC21B):c.766T>G (p.Tyr256Asp)
NM_024753.5(TTC21B):c.770T>C (p.Val257Ala)
NM_024753.5(TTC21B):c.776G>C (p.Arg259Thr) rs1347669823
NM_024753.5(TTC21B):c.779A>T (p.Glu260Val)
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) rs886055027
NM_024753.5(TTC21B):c.797C>T (p.Ala266Val) rs562559211
NM_024753.5(TTC21B):c.820G>C (p.Gly274Arg) rs2105347173
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu) rs776784928
NM_024753.5(TTC21B):c.887G>A (p.Ser296Asn)
NM_024753.5(TTC21B):c.895-3T>C
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys) rs1437304335
NM_024753.5(TTC21B):c.902G>A (p.Arg301His)
NM_024753.5(TTC21B):c.932C>T (p.Thr311Met)
NM_024753.5(TTC21B):c.940G>A (p.Glu314Lys)
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698

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