ClinVar Miner

List of variants studied for autosomal dominant limb-girdle muscular dystrophy type 1F

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 579
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HGVS dbSNP gnomAD frequency
NM_012470.4(TNPO3):c.1359-73G>A rs1154329 0.85345
NM_012470.4(TNPO3):c.2661C>T (p.Ala887=) rs8043 0.49045
NM_012470.4(TNPO3):c.759C>G (p.Leu253=) rs2305324 0.35727
NM_012470.4(TNPO3):c.2062-12T>G rs112438598 0.06913
NM_012470.4(TNPO3):c.2358G>A (p.Leu786=) rs11538884 0.04242
NM_012470.4(TNPO3):c.2205C>T (p.Leu735=) rs2293493 0.03941
NM_012470.4(TNPO3):c.321+16C>T rs17424179 0.02517
NM_012470.4(TNPO3):c.2154G>T (p.Arg718=) rs35060568 0.01445
NM_012470.4(TNPO3):c.2273+16G>A rs116108543 0.00200
NM_012470.4(TNPO3):c.2652C>T (p.Thr884=) rs149434536 0.00140
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=) rs142359170 0.00093
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val) rs61756249 0.00061
NM_012470.4(TNPO3):c.120+9C>A rs372906002 0.00048
NM_012470.4(TNPO3):c.582T>C (p.Asp194=) rs148885407 0.00041
NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile) rs61756250 0.00037
NM_012470.4(TNPO3):c.2061+18G>A rs376309645 0.00026
NM_012470.4(TNPO3):c.1416C>T (p.Thr472=) rs368379579 0.00019
NM_012470.4(TNPO3):c.396-19C>T rs182115682 0.00019
NM_012470.4(TNPO3):c.1245G>T (p.Gly415=) rs780066082 0.00016
NM_012470.4(TNPO3):c.30C>T (p.Leu10=) rs138263703 0.00016
NM_012470.4(TNPO3):c.2079C>T (p.His693=) rs199826657 0.00014
NM_012470.4(TNPO3):c.2625C>T (p.Ser875=) rs201210726 0.00014
NM_012470.4(TNPO3):c.857G>A (p.Arg286His) rs140709222 0.00013
NM_012470.4(TNPO3):c.697-20T>C rs763178956 0.00012
NM_012470.4(TNPO3):c.120+6G>A rs777627322 0.00010
NM_012470.4(TNPO3):c.2598+20G>A rs373575451 0.00010
NM_012470.4(TNPO3):c.1293C>T (p.Asn431=) rs773653882 0.00009
NM_012470.4(TNPO3):c.1417G>A (p.Val473Ile) rs150330408 0.00009
NM_012470.4(TNPO3):c.2062-20A>G rs780511184 0.00009
NM_012470.4(TNPO3):c.906A>G (p.Leu302=) rs141881594 0.00009
NM_012470.4(TNPO3):c.1122C>T (p.His374=) rs781217193 0.00008
NM_012470.4(TNPO3):c.1359-13C>T rs201899490 0.00008
NM_012470.4(TNPO3):c.1267-18C>G rs1038288013 0.00007
NM_012470.4(TNPO3):c.318G>A (p.Thr106=) rs140754153 0.00007
NM_012470.4(TNPO3):c.1636C>T (p.Arg546Cys) rs148210365 0.00006
NM_012470.4(TNPO3):c.2599-6A>G rs374776250 0.00006
NM_012470.4(TNPO3):c.849C>T (p.Ala283=) rs770123607 0.00006
NM_012470.4(TNPO3):c.965G>A (p.Arg322Gln) rs144794750 0.00006
NM_012470.4(TNPO3):c.1179T>C (p.Thr393=) rs769500215 0.00005
NM_012470.4(TNPO3):c.1367A>G (p.Asn456Ser) rs371704560 0.00005
NM_012470.4(TNPO3):c.1371A>G (p.Pro457=) rs745894134 0.00005
NM_012470.4(TNPO3):c.2178+13T>C rs750760846 0.00005
NM_012470.4(TNPO3):c.2431-6A>C rs190759031 0.00005
NM_012470.4(TNPO3):c.121-9C>T rs746353937 0.00004
NM_012470.4(TNPO3):c.1402C>T (p.Arg468Cys) rs781140128 0.00004
NM_012470.4(TNPO3):c.1623C>G (p.Leu541=) rs1002968381 0.00004
NM_012470.4(TNPO3):c.2034A>G (p.Ala678=) rs943256917 0.00004
NM_012470.4(TNPO3):c.234C>T (p.Leu78=) rs142268279 0.00004
NM_012470.4(TNPO3):c.2597C>T (p.Pro866Leu) rs199600419 0.00004
NM_012470.4(TNPO3):c.2609G>A (p.Arg870Gln) rs188168905 0.00004
NM_012470.4(TNPO3):c.2662G>A (p.Val888Ile) rs765613943 0.00004
NM_012470.4(TNPO3):c.738G>A (p.Ser246=) rs779514660 0.00004
NM_012470.4(TNPO3):c.1011+20A>G rs199605219 0.00003
NM_012470.4(TNPO3):c.1090A>C (p.Ile364Leu) rs983345752 0.00003
NM_012470.4(TNPO3):c.1158+17A>G rs764995047 0.00003
NM_012470.4(TNPO3):c.121-8G>A rs779161597 0.00003
NM_012470.4(TNPO3):c.1359-11C>T rs374937475 0.00003
NM_012470.4(TNPO3):c.1410G>A (p.Pro470=) rs747683065 0.00003
NM_012470.4(TNPO3):c.1449A>G (p.Glu483=) rs150392942 0.00003
NM_012470.4(TNPO3):c.1637G>A (p.Arg546His) rs143136370 0.00003
NM_012470.4(TNPO3):c.1840C>T (p.Arg614Cys) rs745908119 0.00003
NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val) rs368873021 0.00003
NM_012470.4(TNPO3):c.2452C>T (p.Arg818Trp) rs570772653 0.00003
NM_012470.4(TNPO3):c.574G>C (p.Gly192Arg) rs770701668 0.00003
NM_012470.4(TNPO3):c.1086T>C (p.His362=) rs775748481 0.00002
NM_012470.4(TNPO3):c.1305G>A (p.Glu435=) rs369577289 0.00002
NM_012470.4(TNPO3):c.1359-12G>A rs369053779 0.00002
NM_012470.4(TNPO3):c.1407C>A (p.Leu469=) rs901969655 0.00002
NM_012470.4(TNPO3):c.1450T>C (p.Leu484=) rs757752282 0.00002
NM_012470.4(TNPO3):c.1453G>A (p.Val485Ile) rs751986019 0.00002
NM_012470.4(TNPO3):c.1473C>T (p.Val491=) rs372690182 0.00002
NM_012470.4(TNPO3):c.1474G>A (p.Val492Ile) rs758997411 0.00002
NM_012470.4(TNPO3):c.1503T>C (p.Pro501=) rs748758528 0.00002
NM_012470.4(TNPO3):c.1851G>T (p.Val617=) rs775746067 0.00002
NM_012470.4(TNPO3):c.1890G>C (p.Gln630His) rs773242792 0.00002
NM_012470.4(TNPO3):c.2178+17G>A rs781751882 0.00002
NM_012470.4(TNPO3):c.2306G>A (p.Arg769Gln) rs772598470 0.00002
NM_012470.4(TNPO3):c.2385C>T (p.Val795=) rs1057064473 0.00002
NM_012470.4(TNPO3):c.2541C>G (p.Pro847=) rs764566484 0.00002
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) rs773574448 0.00002
NM_012470.4(TNPO3):c.553-7T>C rs1321925468 0.00002
NM_012470.4(TNPO3):c.708G>A (p.Lys236=) rs149711174 0.00002
NM_012470.4(TNPO3):c.756T>C (p.Ala252=) rs764539003 0.00002
NM_012470.4(TNPO3):c.1042C>T (p.Arg348Ter) rs1801458570 0.00001
NM_012470.4(TNPO3):c.1072G>A (p.Asp358Asn) rs377543486 0.00001
NM_012470.4(TNPO3):c.1110G>A (p.Gln370=) rs1801450376 0.00001
NM_012470.4(TNPO3):c.11C>A (p.Ala4Glu) rs1563116600 0.00001
NM_012470.4(TNPO3):c.1209A>G (p.Val403=) rs754874514 0.00001
NM_012470.4(TNPO3):c.1267-4C>G rs927858346 0.00001
NM_012470.4(TNPO3):c.1317G>A (p.Ala439=) rs761729877 0.00001
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val) rs1585339231 0.00001
NM_012470.4(TNPO3):c.1339A>G (p.Ile447Val) rs749570438 0.00001
NM_012470.4(TNPO3):c.1358+1G>A rs769542368 0.00001
NM_012470.4(TNPO3):c.1359-5C>T rs757673014 0.00001
NM_012470.4(TNPO3):c.1403G>A (p.Arg468His) rs534068313 0.00001
NM_012470.4(TNPO3):c.1424C>T (p.Thr475Met) rs200236830 0.00001
NM_012470.4(TNPO3):c.1498+3A>G rs936598968 0.00001
NM_012470.4(TNPO3):c.1514A>G (p.Tyr505Cys) rs1287148645 0.00001
NM_012470.4(TNPO3):c.1524A>G (p.Lys508=) rs1328898753 0.00001
NM_012470.4(TNPO3):c.1562A>G (p.Lys521Arg) rs755030982 0.00001
NM_012470.4(TNPO3):c.1567A>C (p.Ile523Leu) rs1385684585 0.00001
NM_012470.4(TNPO3):c.1575C>T (p.Asn525=) rs766587874 0.00001
NM_012470.4(TNPO3):c.1585G>C (p.Val529Leu) rs750192462 0.00001
NM_012470.4(TNPO3):c.160C>T (p.Arg54Trp) rs758601463 0.00001
NM_012470.4(TNPO3):c.1640C>G (p.Ser547Cys) rs1800202347 0.00001
NM_012470.4(TNPO3):c.168T>C (p.Asp56=) rs200565176 0.00001
NM_012470.4(TNPO3):c.1712G>A (p.Arg571Gln) rs376932742 0.00001
NM_012470.4(TNPO3):c.1734C>T (p.Thr578=) rs776367979 0.00001
NM_012470.4(TNPO3):c.1752A>G (p.Leu584=) rs774605323 0.00001
NM_012470.4(TNPO3):c.1774T>C (p.Leu592=) rs368868052 0.00001
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val) rs886043402 0.00001
NM_012470.4(TNPO3):c.1814C>G (p.Ser605Cys) rs775917042 0.00001
NM_012470.4(TNPO3):c.1841G>A (p.Arg614His) rs781272417 0.00001
NM_012470.4(TNPO3):c.1873A>G (p.Ile625Val) rs1480719788 0.00001
NM_012470.4(TNPO3):c.1874T>C (p.Ile625Thr) rs200950202 0.00001
NM_012470.4(TNPO3):c.1887A>G (p.Gly629=) rs1339472374 0.00001
NM_012470.4(TNPO3):c.189T>C (p.Ala63=) rs755216120 0.00001
NM_012470.4(TNPO3):c.1927C>T (p.Pro643Ser) rs1400881026 0.00001
NM_012470.4(TNPO3):c.1947A>G (p.Leu649=) rs1335848274 0.00001
NM_012470.4(TNPO3):c.1958G>A (p.Arg653Gln) rs766916784 0.00001
NM_012470.4(TNPO3):c.1961C>T (p.Ala654Val) rs760634627 0.00001
NM_012470.4(TNPO3):c.2058A>G (p.Thr686=) rs1585330590 0.00001
NM_012470.4(TNPO3):c.2061+17C>T rs190490751 0.00001
NM_012470.4(TNPO3):c.2062-8C>G rs1486585360 0.00001
NM_012470.4(TNPO3):c.2152C>T (p.Arg718Trp) rs771596630 0.00001
NM_012470.4(TNPO3):c.2185T>G (p.Cys729Gly) rs781724504 0.00001
NM_012470.4(TNPO3):c.2186G>C (p.Cys729Ser) rs757809379 0.00001
NM_012470.4(TNPO3):c.2196C>G (p.Thr732=) rs758436476 0.00001
NM_012470.4(TNPO3):c.2256G>T (p.Leu752=) rs1351482070 0.00001
NM_012470.4(TNPO3):c.2274-17C>T rs761707470 0.00001
NM_012470.4(TNPO3):c.2324C>G (p.Pro775Arg) rs1213604486 0.00001
NM_012470.4(TNPO3):c.2333A>G (p.Gln778Arg) rs1339666918 0.00001
NM_012470.4(TNPO3):c.2426A>G (p.Asn809Ser) rs1002747651 0.00001
NM_012470.4(TNPO3):c.2519C>A (p.Thr840Asn) rs1344658136 0.00001
NM_012470.4(TNPO3):c.2539C>G (p.Pro847Ala) rs774723247 0.00001
NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala) rs566110160 0.00001
NM_012470.4(TNPO3):c.2572T>C (p.Trp858Arg) rs886044413 0.00001
NM_012470.4(TNPO3):c.2598G>A (p.Pro866=) rs758404751 0.00001
NM_012470.4(TNPO3):c.259C>T (p.Arg87Trp) rs760724185 0.00001
NM_012470.4(TNPO3):c.2611T>C (p.Trp871Arg) rs886044218 0.00001
NM_012470.4(TNPO3):c.2633G>T (p.Gly878Val) rs1214636778 0.00001
NM_012470.4(TNPO3):c.2653G>A (p.Val885Met) rs545012511 0.00001
NM_012470.4(TNPO3):c.2711+17G>C rs774254170 0.00001
NM_012470.4(TNPO3):c.2718G>A (p.Glu906=) rs751327499 0.00001
NM_012470.4(TNPO3):c.2768G>A (p.Arg923Gln) rs750548861 0.00001
NM_012470.4(TNPO3):c.282C>A (p.Ile94=) rs1344567292 0.00001
NM_012470.4(TNPO3):c.317C>T (p.Thr106Met) rs770038958 0.00001
NM_012470.4(TNPO3):c.322-12T>C rs750422002 0.00001
NM_012470.4(TNPO3):c.390G>A (p.Val130=) rs1263633916 0.00001
NM_012470.4(TNPO3):c.395+15T>C rs1205352110 0.00001
NM_012470.4(TNPO3):c.525C>G (p.Phe175Leu) rs1249604129 0.00001
NM_012470.4(TNPO3):c.534T>C (p.Ser178=) rs770150722 0.00001
NM_012470.4(TNPO3):c.549A>G (p.Leu183=) rs965217293 0.00001
NM_012470.4(TNPO3):c.550T>C (p.Leu184=) rs757199066 0.00001
NM_012470.4(TNPO3):c.608G>A (p.Arg203His) rs977205285 0.00001
NM_012470.4(TNPO3):c.713C>T (p.Ser238Leu) rs748952773 0.00001
NM_012470.4(TNPO3):c.747A>G (p.Val249=) rs1326573780 0.00001
NM_012470.4(TNPO3):c.753A>G (p.Ser251=) rs1030327374 0.00001
NM_012470.4(TNPO3):c.804A>G (p.Gln268=) rs886044161 0.00001
NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys) rs745576236 0.00001
NM_012470.4(TNPO3):c.873-3C>T rs780935123 0.00001
NM_012470.4(TNPO3):c.952C>G (p.Leu318Val) rs762053595 0.00001
NM_012470.4(TNPO3):c.964C>T (p.Arg322Ter) rs751304152 0.00001
NM_012470.4(TNPO3):c.975G>C (p.Glu325Asp) rs1415790123 0.00001
NC_000007.13:g.(?_128388409)_(128694824_?)del
NC_000007.13:g.(?_128470692)_(128694824_?)dup
NC_000007.13:g.(?_128637433)_(128694824_?)del
NM_012470.4(TNPO3):c.1005A>G (p.Gln335=)
NM_012470.4(TNPO3):c.1011+15A>G rs373745582
NM_012470.4(TNPO3):c.1011+3A>G
NM_012470.4(TNPO3):c.1011+4G>A
NM_012470.4(TNPO3):c.1011+4G>C
NM_012470.4(TNPO3):c.1011+9T>C rs1585344752
NM_012470.4(TNPO3):c.1012-2A>G
NM_012470.4(TNPO3):c.1012-4A>T
NM_012470.4(TNPO3):c.1047G>C (p.Leu349=)
NM_012470.4(TNPO3):c.104G>A (p.Gly35Glu) rs746657043
NM_012470.4(TNPO3):c.1053A>G (p.Glu351=) rs2150368377
NM_012470.4(TNPO3):c.1059G>A (p.Leu353=)
NM_012470.4(TNPO3):c.1062C>G (p.Tyr354Ter)
NM_012470.4(TNPO3):c.1069A>G (p.Asn357Asp)
NM_012470.4(TNPO3):c.1071C>T (p.Asn357=)
NM_012470.4(TNPO3):c.1073A>G (p.Asp358Gly) rs2150368323
NM_012470.4(TNPO3):c.1088G>A (p.Gly363Asp)
NM_012470.4(TNPO3):c.1092C>T (p.Ile364=)
NM_012470.4(TNPO3):c.1100C>A (p.Ala367Asp)
NM_012470.4(TNPO3):c.1103A>G (p.Tyr368Cys)
NM_012470.4(TNPO3):c.1104C>T (p.Tyr368=) rs1554439189
NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val)
NM_012470.4(TNPO3):c.1112G>A (p.Arg371Lys)
NM_012470.4(TNPO3):c.1146G>A (p.Leu382=) rs1183229346
NM_012470.4(TNPO3):c.1150C>T (p.Pro384Ser)
NM_012470.4(TNPO3):c.1152A>G (p.Pro384=) rs1412251495
NM_012470.4(TNPO3):c.1153G>T (p.Asp385Tyr) rs2150368155
NM_012470.4(TNPO3):c.1157A>G (p.His386Arg)
NM_012470.4(TNPO3):c.1159-11del
NM_012470.4(TNPO3):c.1159-15G>A
NM_012470.4(TNPO3):c.1159-3T>C rs2150358752
NM_012470.4(TNPO3):c.1159-7A>G
NM_012470.4(TNPO3):c.1165G>A (p.Val389Ile)
NM_012470.4(TNPO3):c.1199G>A (p.Arg400His)
NM_012470.4(TNPO3):c.120+13G>A
NM_012470.4(TNPO3):c.120+14A>G
NM_012470.4(TNPO3):c.120+20A>G
NM_012470.4(TNPO3):c.120+7G>A rs2150585874
NM_012470.4(TNPO3):c.1200C>T (p.Arg400=)
NM_012470.4(TNPO3):c.1201A>G (p.Met401Val)
NM_012470.4(TNPO3):c.1216C>G (p.Leu406Val) rs1585340363
NM_012470.4(TNPO3):c.1241T>C (p.Ile414Thr) rs1554438690
NM_012470.4(TNPO3):c.1249A>G (p.Met417Val)
NM_012470.4(TNPO3):c.1256G>A (p.Cys419Tyr) rs1554438680
NM_012470.4(TNPO3):c.1256_1257insA (p.Cys419Ter)
NM_012470.4(TNPO3):c.1263T>C (p.Ala421=)
NM_012470.4(TNPO3):c.1265A>G (p.Gln422Arg)
NM_012470.4(TNPO3):c.1266+13G>A
NM_012470.4(TNPO3):c.1266+13G>C
NM_012470.4(TNPO3):c.1266+19T>G rs2150358452
NM_012470.4(TNPO3):c.1266+20_1266+30del
NM_012470.4(TNPO3):c.1267-13del rs764060615
NM_012470.4(TNPO3):c.1267-14C>T
NM_012470.4(TNPO3):c.1267-16A>G
NM_012470.4(TNPO3):c.1270T>A (p.Tyr424Asn) rs758068778
NM_012470.4(TNPO3):c.1276A>G (p.Thr426Ala) rs2150354070
NM_012470.4(TNPO3):c.1292A>C (p.Asn431Thr)
NM_012470.4(TNPO3):c.1298C>T (p.Pro433Leu)
NM_012470.4(TNPO3):c.1306G>T (p.Val436Leu)
NM_012470.4(TNPO3):c.130T>C (p.Trp44Arg) rs2150437358
NM_012470.4(TNPO3):c.1314A>C (p.Glu438Asp)
NM_012470.4(TNPO3):c.1316C>T (p.Ala439Val)
NM_012470.4(TNPO3):c.1330A>G (p.Met444Val)
NM_012470.4(TNPO3):c.1358+12A>G
NM_012470.4(TNPO3):c.1358+16G>A
NM_012470.4(TNPO3):c.1358C>T (p.Pro453Leu)
NM_012470.4(TNPO3):c.1359-13C>A
NM_012470.4(TNPO3):c.1359-14C>T
NM_012470.4(TNPO3):c.1359-19A>G
NM_012470.4(TNPO3):c.1369C>T (p.Pro457Ser) rs1585338002
NM_012470.4(TNPO3):c.1396G>T (p.Val466Phe)
NM_012470.4(TNPO3):c.1409C>T (p.Pro470Leu) rs137891112
NM_012470.4(TNPO3):c.1416C>G (p.Thr472=)
NM_012470.4(TNPO3):c.1423dup (p.Thr475fs)
NM_012470.4(TNPO3):c.1461G>A (p.Glu487=)
NM_012470.4(TNPO3):c.1484A>C (p.Asn495Thr)
NM_012470.4(TNPO3):c.1495C>T (p.Leu499Phe)
NM_012470.4(TNPO3):c.1498+19C>G
NM_012470.4(TNPO3):c.1498+19C>T
NM_012470.4(TNPO3):c.1499-13C>T
NM_012470.4(TNPO3):c.1499-21_1499-20del
NM_012470.4(TNPO3):c.1499-3T>C
NM_012470.4(TNPO3):c.1499-5C>T
NM_012470.4(TNPO3):c.1502C>G (p.Pro501Arg)
NM_012470.4(TNPO3):c.1510G>T (p.Gly504Cys) rs2150339692
NM_012470.4(TNPO3):c.1511G>C (p.Gly504Ala)
NM_012470.4(TNPO3):c.1521G>T (p.Met507Ile) rs1554437833
NM_012470.4(TNPO3):c.1525G>C (p.Gly509Arg)
NM_012470.4(TNPO3):c.155A>C (p.Gln52Pro)
NM_012470.4(TNPO3):c.1560C>T (p.Ala520=)
NM_012470.4(TNPO3):c.1562A>C (p.Lys521Thr)
NM_012470.4(TNPO3):c.1574A>G (p.Asn525Ser)
NM_012470.4(TNPO3):c.1579T>C (p.Cys527Arg) rs2150339499
NM_012470.4(TNPO3):c.1591C>T (p.Arg531Ter)
NM_012470.4(TNPO3):c.1592G>A (p.Arg531Gln)
NM_012470.4(TNPO3):c.1593A>T (p.Arg531=) rs1800208124
NM_012470.4(TNPO3):c.1607A>C (p.Gln536Pro) rs886043969
NM_012470.4(TNPO3):c.1609C>A (p.His537Asn) rs2150339414
NM_012470.4(TNPO3):c.1611C>A (p.His537Gln) rs762458456
NM_012470.4(TNPO3):c.1611C>G (p.His537Gln)
NM_012470.4(TNPO3):c.1616A>G (p.Asn539Ser)
NM_012470.4(TNPO3):c.161G>A (p.Arg54Gln)
NM_012470.4(TNPO3):c.1624C>T (p.Leu542=)
NM_012470.4(TNPO3):c.1628_1629insT (p.Glu543fs)
NM_012470.4(TNPO3):c.1629G>A (p.Glu543=) rs2150339328
NM_012470.4(TNPO3):c.1632T>G (p.Ile544Met)
NM_012470.4(TNPO3):c.163C>T (p.Gln55Ter) rs1804050408
NM_012470.4(TNPO3):c.1644C>T (p.Leu548=)
NM_012470.4(TNPO3):c.1665A>G (p.Pro555=)
NM_012470.4(TNPO3):c.1674T>C (p.Ala558=)
NM_012470.4(TNPO3):c.1691-13_1691-10del
NM_012470.4(TNPO3):c.1717C>T (p.Pro573Ser) rs2150331967
NM_012470.4(TNPO3):c.1718C>A (p.Pro573His)
NM_012470.4(TNPO3):c.1722G>C (p.Leu574Phe)
NM_012470.4(TNPO3):c.1723G>T (p.Asp575Tyr) rs2150331941
NM_012470.4(TNPO3):c.1724A>G (p.Asp575Gly) rs996597469
NM_012470.4(TNPO3):c.1735G>A (p.Glu579Lys)
NM_012470.4(TNPO3):c.1746T>C (p.Ser582=)
NM_012470.4(TNPO3):c.1763A>T (p.Gln588Leu)
NM_012470.4(TNPO3):c.1773A>G (p.Ala591=)
NM_012470.4(TNPO3):c.1777A>G (p.Lys593Glu) rs1009156162
NM_012470.4(TNPO3):c.177A>G (p.Ser59=)
NM_012470.4(TNPO3):c.1782+11T>C
NM_012470.4(TNPO3):c.1782+16G>A rs1042965932
NM_012470.4(TNPO3):c.1782G>A (p.Lys594=) rs886044359
NM_012470.4(TNPO3):c.1783-11del
NM_012470.4(TNPO3):c.1783-12T>A
NM_012470.4(TNPO3):c.1783-18G>A rs1281369584
NM_012470.4(TNPO3):c.1783-7T>A
NM_012470.4(TNPO3):c.1783-8C>T
NM_012470.4(TNPO3):c.1797G>A (p.Glu599=)
NM_012470.4(TNPO3):c.1798C>T (p.Pro600Ser)
NM_012470.4(TNPO3):c.1805A>T (p.Asn602Ile)
NM_012470.4(TNPO3):c.1824C>T (p.Pro608=) rs1563092740
NM_012470.4(TNPO3):c.1827A>C (p.Thr609=) rs2150325469
NM_012470.4(TNPO3):c.182A>G (p.Tyr61Cys) rs1804048768
NM_012470.4(TNPO3):c.1832T>G (p.Phe611Cys)
NM_012470.4(TNPO3):c.1833C>G (p.Phe611Leu)
NM_012470.4(TNPO3):c.1842C>A (p.Arg614=) rs891112279
NM_012470.4(TNPO3):c.1842C>T (p.Arg614=) rs891112279
NM_012470.4(TNPO3):c.1859+11A>G
NM_012470.4(TNPO3):c.1859+15_1859+16delinsAA
NM_012470.4(TNPO3):c.1859+16C>T rs540440694
NM_012470.4(TNPO3):c.1859+19G>C
NM_012470.4(TNPO3):c.1859+3A>G
NM_012470.4(TNPO3):c.1859G>T (p.Arg620Met)
NM_012470.4(TNPO3):c.185T>G (p.Phe62Cys)
NM_012470.4(TNPO3):c.1860-18G>C
NM_012470.4(TNPO3):c.1860-20G>A
NM_012470.4(TNPO3):c.1860-5C>T rs1585331376
NM_012470.4(TNPO3):c.1865C>T (p.Thr622Ile)
NM_012470.4(TNPO3):c.1892C>T (p.Thr631Ile)
NM_012470.4(TNPO3):c.1898C>T (p.Pro633Leu)
NM_012470.4(TNPO3):c.18G>C (p.Pro6=) rs761915639
NM_012470.4(TNPO3):c.1901G>A (p.Cys634Tyr)
NM_012470.4(TNPO3):c.1906A>G (p.Lys636Glu) rs2129004629
NM_012470.4(TNPO3):c.1918G>C (p.Glu640Gln)
NM_012470.4(TNPO3):c.1920+16T>C
NM_012470.4(TNPO3):c.1921-7G>C
NM_012470.4(TNPO3):c.1929A>G (p.Pro643=) rs2129003729
NM_012470.4(TNPO3):c.1933T>G (p.Leu645Val) rs1799377598
NM_012470.4(TNPO3):c.1936T>C (p.Ser646Pro) rs2129003718
NM_012470.4(TNPO3):c.1938C>T (p.Ser646=)
NM_012470.4(TNPO3):c.1945C>T (p.Leu649=) rs1585330722
NM_012470.4(TNPO3):c.1951A>G (p.Lys651Glu)
NM_012470.4(TNPO3):c.1953G>A (p.Lys651=) rs2129003682
NM_012470.4(TNPO3):c.1954C>T (p.His652Tyr)
NM_012470.4(TNPO3):c.1958G>T (p.Arg653Leu)
NM_012470.4(TNPO3):c.1964A>G (p.Asp655Gly)
NM_012470.4(TNPO3):c.1969C>T (p.Arg657Trp)
NM_012470.4(TNPO3):c.1977A>C (p.Val659=)
NM_012470.4(TNPO3):c.1980G>A (p.Glu660=)
NM_012470.4(TNPO3):c.1989C>T (p.Cys663=)
NM_012470.4(TNPO3):c.2007dup (p.Val670fs) rs1799368672
NM_012470.4(TNPO3):c.2011C>T (p.Arg671Cys)
NM_012470.4(TNPO3):c.2012G>A (p.Arg671His)
NM_012470.4(TNPO3):c.2015G>T (p.Cys672Phe) rs779786988
NM_012470.4(TNPO3):c.201G>C (p.Met67Ile)
NM_012470.4(TNPO3):c.2028A>T (p.Gly676=)
NM_012470.4(TNPO3):c.2046G>T (p.Gln682His)
NM_012470.4(TNPO3):c.2061+10T>G rs2129003531
NM_012470.4(TNPO3):c.2061+17C>G rs190490751
NM_012470.4(TNPO3):c.2061+9A>T rs1799361297
NM_012470.4(TNPO3):c.2062-17G>A
NM_012470.4(TNPO3):c.2062-4A>G
NM_012470.4(TNPO3):c.2067G>A (p.Val689=)
NM_012470.4(TNPO3):c.2069A>G (p.Asn690Ser)
NM_012470.4(TNPO3):c.2070T>C (p.Asn690=) rs560128689
NM_012470.4(TNPO3):c.2071G>A (p.Val691Met) rs1203231715
NM_012470.4(TNPO3):c.2076C>T (p.Tyr692=) rs1585328724
NM_012470.4(TNPO3):c.2077C>G (p.His693Asp)
NM_012470.4(TNPO3):c.2080G>A (p.Val694Ile)
NM_012470.4(TNPO3):c.2081T>C (p.Val694Ala)
NM_012470.4(TNPO3):c.2082A>G (p.Val694=)
NM_012470.4(TNPO3):c.2121T>G (p.Leu707=)
NM_012470.4(TNPO3):c.2142A>T (p.Glu714Asp)
NM_012470.4(TNPO3):c.2145A>T (p.Glu715Asp)
NM_012470.4(TNPO3):c.2153G>A (p.Arg718Gln)
NM_012470.4(TNPO3):c.2160A>T (p.Gly720=)
NM_012470.4(TNPO3):c.2167G>A (p.Asp723Asn) rs2129000052
NM_012470.4(TNPO3):c.2175C>T (p.Leu725=) rs958453001
NM_012470.4(TNPO3):c.2177A>G (p.Gln726Arg) rs1357424657
NM_012470.4(TNPO3):c.2177A>T (p.Gln726Leu)
NM_012470.4(TNPO3):c.2178+12A>G
NM_012470.4(TNPO3):c.2178+9T>G
NM_012470.4(TNPO3):c.2179-15A>G
NM_012470.4(TNPO3):c.2179-8T>C
NM_012470.4(TNPO3):c.2179-8T>G
NM_012470.4(TNPO3):c.2179-8del
NM_012470.4(TNPO3):c.2190C>T (p.Ile730=)
NM_012470.4(TNPO3):c.2191C>T (p.Pro731Ser)
NM_012470.4(TNPO3):c.21A>C (p.Thr7=) rs1809277773
NM_012470.4(TNPO3):c.2202G>A (p.Gln734=)
NM_012470.4(TNPO3):c.2206C>T (p.Leu736=) rs2128998914
NM_012470.4(TNPO3):c.2212C>G (p.Gln738Glu) rs1798907371
NM_012470.4(TNPO3):c.2222G>A (p.Gly741Asp) rs1179797056
NM_012470.4(TNPO3):c.2228A>G (p.Gln743Arg)
NM_012470.4(TNPO3):c.2271C>G (p.Thr757=)
NM_012470.4(TNPO3):c.2273+18G>A
NM_012470.4(TNPO3):c.2274-10del rs539653012
NM_012470.4(TNPO3):c.2274-15C>A
NM_012470.4(TNPO3):c.2274-15C>T
NM_012470.4(TNPO3):c.2274-5A>G rs567711266
NM_012470.4(TNPO3):c.2276T>G (p.Phe759Cys) rs2128995402
NM_012470.4(TNPO3):c.2280T>G (p.Ile760Met)
NM_012470.4(TNPO3):c.2284C>T (p.Arg762Cys)
NM_012470.4(TNPO3):c.2285G>A (p.Arg762His)
NM_012470.4(TNPO3):c.2325T>C (p.Pro775=)
NM_012470.4(TNPO3):c.232C>G (p.Leu78Val) rs1554441599
NM_012470.4(TNPO3):c.2359G>A (p.Asp787Asn)
NM_012470.4(TNPO3):c.2364C>T (p.His788=)
NM_012470.4(TNPO3):c.2382T>C (p.Ser794=)
NM_012470.4(TNPO3):c.2383G>T (p.Val795Phe)
NM_012470.4(TNPO3):c.2404C>G (p.Leu802Val)
NM_012470.4(TNPO3):c.2409T>G (p.Ile803Met)
NM_012470.4(TNPO3):c.2413A>G (p.Thr805Ala)
NM_012470.4(TNPO3):c.2430+16A>G
NM_012470.4(TNPO3):c.2430+1G>A
NM_012470.4(TNPO3):c.2430+9A>C
NM_012470.4(TNPO3):c.2431-2A>C rs886043142
NM_012470.4(TNPO3):c.2441A>G (p.Asp814Gly)
NM_012470.4(TNPO3):c.2453G>A (p.Arg818Gln)
NM_012470.4(TNPO3):c.2453G>C (p.Arg818Pro) rs587777431
NM_012470.4(TNPO3):c.2481C>T (p.Asn827=) rs1585324644
NM_012470.4(TNPO3):c.2489G>C (p.Gly830Ala)
NM_012470.4(TNPO3):c.2502C>G (p.Val834=) rs1798324013
NM_012470.4(TNPO3):c.2503A>G (p.Ser835Gly)
NM_012470.4(TNPO3):c.250G>A (p.Ala84Thr) rs766350344
NM_012470.4(TNPO3):c.2514G>A (p.Leu838=)
NM_012470.4(TNPO3):c.2517C>T (p.His839=)
NM_012470.4(TNPO3):c.2534T>G (p.Leu845Arg) rs1225457720
NM_012470.4(TNPO3):c.2537C>G (p.Pro846Arg)
NM_012470.4(TNPO3):c.2540C>A (p.Pro847His)
NM_012470.4(TNPO3):c.2540C>G (p.Pro847Arg) rs1193471279
NM_012470.4(TNPO3):c.2541del (p.Tyr848fs)
NM_012470.4(TNPO3):c.2543A>G (p.Tyr848Cys) rs1554435157
NM_012470.4(TNPO3):c.2544T>C (p.Tyr848=) rs1484665557
NM_012470.4(TNPO3):c.2547C>G (p.Thr849=)
NM_012470.4(TNPO3):c.2547C>T (p.Thr849=)
NM_012470.4(TNPO3):c.2577G>A (p.Glu859=) rs1585324549
NM_012470.4(TNPO3):c.2580C>T (p.Ile860=) rs2128992028
NM_012470.4(TNPO3):c.2581A>G (p.Met861Val)
NM_012470.4(TNPO3):c.2590G>A (p.Asp864Asn) rs1585324543
NM_012470.4(TNPO3):c.2598+10T>G rs2128991988
NM_012470.4(TNPO3):c.2598+17G>A
NM_012470.4(TNPO3):c.2598+9G>A
NM_012470.4(TNPO3):c.2599-15del
NM_012470.4(TNPO3):c.2599-18C>A
NM_012470.4(TNPO3):c.2599-3_2599-2del rs2128988537
NM_012470.4(TNPO3):c.2653G>T (p.Val885Leu)
NM_012470.4(TNPO3):c.2655G>A (p.Val885=) rs548382251
NM_012470.4(TNPO3):c.2666C>G (p.Thr889Arg) rs1798016883
NM_012470.4(TNPO3):c.2673A>G (p.Thr891=)
NM_012470.4(TNPO3):c.2674C>A (p.His892Asn) rs1798015777
NM_012470.4(TNPO3):c.2674C>G (p.His892Asp)
NM_012470.4(TNPO3):c.2674C>T (p.His892Tyr) rs1798015777
NM_012470.4(TNPO3):c.2677A>C (p.Lys893Gln) rs2128988428
NM_012470.4(TNPO3):c.2706C>G (p.Val902=)
NM_012470.4(TNPO3):c.2711+11C>A
NM_012470.4(TNPO3):c.2711+16G>T
NM_012470.4(TNPO3):c.2711+17del
NM_012470.4(TNPO3):c.2740G>A (p.Ala914Thr)
NM_012470.4(TNPO3):c.2751C>A (p.Asp917Glu)
NM_012470.4(TNPO3):c.2754del (p.Phe918fs)
NM_012470.4(TNPO3):c.2765T>C (p.Phe922Ser)
NM_012470.4(TNPO3):c.2765_*2del (p.Phe922fs) rs2128974604
NM_012470.4(TNPO3):c.2767del (p.Arg923fs) rs1563083759
NM_012470.4(TNPO3):c.2771del (p.Ter924CysextTer?) rs587777430
NM_012470.4(TNPO3):c.28C>T (p.Leu10Phe) rs1554445896
NM_012470.4(TNPO3):c.297C>T (p.Asp99=) rs2150436866
NM_012470.4(TNPO3):c.307G>A (p.Val103Ile)
NM_012470.4(TNPO3):c.308T>C (p.Val103Ala) rs1804036136
NM_012470.4(TNPO3):c.30C>G (p.Leu10=)
NM_012470.4(TNPO3):c.311T>C (p.Ile104Thr)
NM_012470.4(TNPO3):c.320A>G (p.Gln107Arg) rs1804034381
NM_012470.4(TNPO3):c.321+10G>A
NM_012470.4(TNPO3):c.321+4A>G
NM_012470.4(TNPO3):c.322-13CT[2]
NM_012470.4(TNPO3):c.322-14T>C
NM_012470.4(TNPO3):c.332C>T (p.Ala111Val) rs886044227
NM_012470.4(TNPO3):c.342T>A (p.Asp114Glu) rs2150433664
NM_012470.4(TNPO3):c.359C>T (p.Pro120Leu) rs567680509
NM_012470.4(TNPO3):c.368del (p.Lys123fs) rs2150433570
NM_012470.4(TNPO3):c.369G>A (p.Lys123=)
NM_012470.4(TNPO3):c.371G>T (p.Gly124Val)
NM_012470.4(TNPO3):c.381A>C (p.Gln127His) rs1803924867
NM_012470.4(TNPO3):c.388G>T (p.Val130Leu)
NM_012470.4(TNPO3):c.395+19C>T rs772582489
NM_012470.4(TNPO3):c.396-19C>A
NM_012470.4(TNPO3):c.420G>C (p.Leu140Phe)
NM_012470.4(TNPO3):c.42A>C (p.Ala14=)
NM_012470.4(TNPO3):c.42A>G (p.Ala14=) rs1191168403
NM_012470.4(TNPO3):c.435G>A (p.Glu145=) rs2150425721
NM_012470.4(TNPO3):c.448T>C (p.Leu150=)
NM_012470.4(TNPO3):c.45G>T (p.Val15=)
NM_012470.4(TNPO3):c.465T>C (p.His155=)
NM_012470.4(TNPO3):c.469C>T (p.Arg157Cys)
NM_012470.4(TNPO3):c.470G>A (p.Arg157His)
NM_012470.4(TNPO3):c.472del (p.Ser158fs)
NM_012470.4(TNPO3):c.478C>T (p.Arg160Ter) rs752037576
NM_012470.4(TNPO3):c.481A>G (p.Ile161Val)
NM_012470.4(TNPO3):c.496C>T (p.Arg166Cys) rs1423454696
NM_012470.4(TNPO3):c.497G>A (p.Arg166His) rs1385305064
NM_012470.4(TNPO3):c.51G>C (p.Ala17=)
NM_012470.4(TNPO3):c.522C>A (p.Ala174=)
NM_012470.4(TNPO3):c.523_524delinsGC (p.Phe175Ala)
NM_012470.4(TNPO3):c.533G>A (p.Ser178Asn)
NM_012470.4(TNPO3):c.537A>G (p.Thr179=)
NM_012470.4(TNPO3):c.53T>C (p.Leu18Pro)
NM_012470.4(TNPO3):c.541G>A (p.Val181Ile)
NM_012470.4(TNPO3):c.547C>T (p.Leu183=)
NM_012470.4(TNPO3):c.551T>G (p.Leu184Trp)
NM_012470.4(TNPO3):c.552+11T>C
NM_012470.4(TNPO3):c.552+4A>C
NM_012470.4(TNPO3):c.552+6T>A rs373527589
NM_012470.4(TNPO3):c.552+9G>A rs1343949090
NM_012470.4(TNPO3):c.559T>G (p.Cys187Gly) rs2150392832
NM_012470.4(TNPO3):c.582T>A (p.Asp194Glu) rs148885407
NM_012470.4(TNPO3):c.585G>A (p.Glu195=)
NM_012470.4(TNPO3):c.592C>T (p.Leu198Phe)
NM_012470.4(TNPO3):c.600G>A (p.Lys200=)
NM_012470.4(TNPO3):c.60C>T (p.His20=)
NM_012470.4(TNPO3):c.617G>A (p.Gly206Glu)
NM_012470.4(TNPO3):c.618A>G (p.Gly206=)
NM_012470.4(TNPO3):c.619A>G (p.Ser207Gly)
NM_012470.4(TNPO3):c.632T>G (p.Leu211Trp)
NM_012470.4(TNPO3):c.635G>T (p.Gly212Val)
NM_012470.4(TNPO3):c.640T>C (p.Leu214=) rs777513863
NM_012470.4(TNPO3):c.643G>A (p.Asp215Asn)
NM_012470.4(TNPO3):c.64C>G (p.Pro22Ala) rs1809272125
NM_012470.4(TNPO3):c.655A>C (p.Met219Leu)
NM_012470.4(TNPO3):c.655A>G (p.Met219Val)
NM_012470.4(TNPO3):c.660T>C (p.Ala220=)
NM_012470.4(TNPO3):c.668_672del (p.Lys223fs)
NM_012470.4(TNPO3):c.673C>T (p.Leu225=)
NM_012470.4(TNPO3):c.676G>A (p.Ala226Thr)
NM_012470.4(TNPO3):c.681C>G (p.Leu227=)
NM_012470.4(TNPO3):c.688G>T (p.Glu230Ter)
NM_012470.4(TNPO3):c.696+12C>T
NM_012470.4(TNPO3):c.696+16A>G
NM_012470.4(TNPO3):c.697-10A>G
NM_012470.4(TNPO3):c.697-16C>T
NM_012470.4(TNPO3):c.697-3dup rs2150379563
NM_012470.4(TNPO3):c.697-4_697-3delinsGA rs1801916406
NM_012470.4(TNPO3):c.697-5C>T
NM_012470.4(TNPO3):c.697-9C>T rs1026833580
NM_012470.4(TNPO3):c.70C>T (p.Pro24Ser) rs1408084010
NM_012470.4(TNPO3):c.712T>C (p.Ser238Pro)
NM_012470.4(TNPO3):c.733G>T (p.Ala245Ser)
NM_012470.4(TNPO3):c.737C>T (p.Ser246Leu)
NM_012470.4(TNPO3):c.747A>C (p.Val249=) rs1326573780
NM_012470.4(TNPO3):c.761A>G (p.Tyr254Cys)
NM_012470.4(TNPO3):c.766A>G (p.Ile256Val) rs1801906733
NM_012470.4(TNPO3):c.76G>A (p.Gly26Arg) rs2150586075
NM_012470.4(TNPO3):c.76G>T (p.Gly26Ter)
NM_012470.4(TNPO3):c.776T>C (p.Val259Ala)
NM_012470.4(TNPO3):c.783T>C (p.Thr261=) rs2150379297
NM_012470.4(TNPO3):c.784A>G (p.Asn262Asp)
NM_012470.4(TNPO3):c.788T>G (p.Leu263Trp)
NM_012470.4(TNPO3):c.796G>A (p.Ala266Thr) rs2150379239
NM_012470.4(TNPO3):c.7G>A (p.Gly3Arg)
NM_012470.4(TNPO3):c.803A>G (p.Gln268Arg) rs538337275
NM_012470.4(TNPO3):c.804A>C (p.Gln268His)
NM_012470.4(TNPO3):c.812A>G (p.Gln271Arg)
NM_012470.4(TNPO3):c.827T>G (p.Leu276Trp) rs1801898949
NM_012470.4(TNPO3):c.82G>A (p.Glu28Lys)
NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp)
NM_012470.4(TNPO3):c.838T>A (p.Tyr280Asn)
NM_012470.4(TNPO3):c.839A>G (p.Tyr280Cys)
NM_012470.4(TNPO3):c.862G>C (p.Asp288His) rs758890890
NM_012470.4(TNPO3):c.872+11G>A
NM_012470.4(TNPO3):c.873-11G>A rs1191347436
NM_012470.4(TNPO3):c.873-17del
NM_012470.4(TNPO3):c.873-4A>G rs1239839333
NM_012470.4(TNPO3):c.873-7T>C
NM_012470.4(TNPO3):c.873-9C>T
NM_012470.4(TNPO3):c.87C>T (p.Arg29=)
NM_012470.4(TNPO3):c.888C>T (p.Cys296=) rs2150377557
NM_012470.4(TNPO3):c.889C>T (p.Arg297Cys)
NM_012470.4(TNPO3):c.890G>T (p.Arg297Leu)
NM_012470.4(TNPO3):c.893T>C (p.Ile298Thr)
NM_012470.4(TNPO3):c.90C>T (p.Ala30=) rs1584601050
NM_012470.4(TNPO3):c.927A>C (p.Lys309Asn)
NM_012470.4(TNPO3):c.934T>C (p.Cys312Arg)
NM_012470.4(TNPO3):c.93T>A (p.Ser31=) rs987521551
NM_012470.4(TNPO3):c.948A>G (p.Gln316=)
NM_012470.4(TNPO3):c.963T>A (p.Leu321=) rs2150377423
NM_012470.4(TNPO3):c.964C>A (p.Arg322=) rs751304152
NM_012470.4(TNPO3):c.96T>A (p.Phe32Leu)
NM_012470.4(TNPO3):c.991G>T (p.Ala331Ser) rs1801818228
NM_012470.4(TNPO3):c.996C>T (p.Gly332=) rs1554439603
NM_012470.4(TNPO3):c.9A>G (p.Gly3=)

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