ClinVar Miner

List of variants reported as uncertain significance for 2-aminoadipic 2-oxoadipic aciduria by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 450
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) rs78189904 0.00073
NM_018706.7(DHTKD1):c.1300G>A (p.Gly434Ser) rs145036232 0.00052
NM_018706.7(DHTKD1):c.973G>A (p.Val325Ile) rs141096646 0.00040
NM_018706.7(DHTKD1):c.2319G>A (p.Pro773=) rs145738102 0.00033
NM_018706.7(DHTKD1):c.847A>G (p.Met283Val) rs145337285 0.00024
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln) rs142068634 0.00016
NM_018706.7(DHTKD1):c.307G>T (p.Ala103Ser) rs35442324 0.00011
NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr) rs199643928 0.00010
NM_018706.7(DHTKD1):c.2525C>T (p.Pro842Leu) rs374419452 0.00010
NM_018706.7(DHTKD1):c.1418C>T (p.Thr473Met) rs146296747 0.00008
NM_018706.7(DHTKD1):c.922C>T (p.Arg308Cys) rs377213027 0.00008
NM_018706.7(DHTKD1):c.1671+3G>A rs369606311 0.00007
NM_018706.7(DHTKD1):c.2689G>A (p.Val897Ile) rs149672309 0.00007
NM_018706.7(DHTKD1):c.554C>T (p.Ser185Leu) rs149544379 0.00007
NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu) rs753355529 0.00006
NM_018706.7(DHTKD1):c.1594C>T (p.Arg532Trp) rs781243504 0.00006
NM_018706.7(DHTKD1):c.1720G>A (p.Ala574Thr) rs200095700 0.00006
NM_018706.7(DHTKD1):c.1904A>G (p.Asn635Ser) rs765879482 0.00006
NM_018706.7(DHTKD1):c.2566G>C (p.Val856Leu) rs147508410 0.00006
NM_018706.7(DHTKD1):c.2659-3T>C rs367606155 0.00006
NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys) rs895237537 0.00006
NM_018706.7(DHTKD1):c.863C>T (p.Ser288Leu) rs201310721 0.00006
NM_018706.7(DHTKD1):c.923G>A (p.Arg308His) rs17849603 0.00006
NM_018706.7(DHTKD1):c.1408G>A (p.Gly470Arg) rs35898320 0.00005
NM_018706.7(DHTKD1):c.1531G>C (p.Gly511Arg) rs111957806 0.00005
NM_018706.7(DHTKD1):c.2332A>G (p.Thr778Ala) rs138115346 0.00005
NM_018706.7(DHTKD1):c.451G>A (p.Glu151Lys) rs908926249 0.00005
NM_018706.7(DHTKD1):c.1721C>T (p.Ala574Val) rs757993723 0.00004
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr) rs539692445 0.00004
NM_018706.7(DHTKD1):c.2629C>G (p.Pro877Ala) rs762777348 0.00004
NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln) rs773052090 0.00004
NM_018706.7(DHTKD1):c.1093A>T (p.Asn365Tyr) rs747758630 0.00003
NM_018706.7(DHTKD1):c.1258C>T (p.Arg420Cys) rs762746645 0.00003
NM_018706.7(DHTKD1):c.1326C>G (p.Phe442Leu) rs781444343 0.00003
NM_018706.7(DHTKD1):c.1939G>A (p.Glu647Lys) rs780139497 0.00003
NM_018706.7(DHTKD1):c.2008A>G (p.Asn670Asp) rs149034097 0.00003
NM_018706.7(DHTKD1):c.2009A>G (p.Asn670Ser) rs762399216 0.00003
NM_018706.7(DHTKD1):c.2144G>A (p.Arg715His) rs145427732 0.00003
NM_018706.7(DHTKD1):c.2263C>T (p.Arg755Trp) rs553531625 0.00003
NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu) rs200355418 0.00003
NM_018706.7(DHTKD1):c.2585G>T (p.Ser862Ile) rs145082960 0.00003
NM_018706.7(DHTKD1):c.2632A>G (p.Arg878Gly) rs1833503490 0.00003
NM_018706.7(DHTKD1):c.2705T>C (p.Ile902Thr) rs145475655 0.00003
NM_018706.7(DHTKD1):c.2743G>A (p.Ala915Thr) rs373277244 0.00003
NM_018706.7(DHTKD1):c.420G>C (p.Gln140His) rs953186201 0.00003
NM_018706.7(DHTKD1):c.508A>C (p.Met170Leu) rs369465951 0.00003
NM_018706.7(DHTKD1):c.610G>A (p.Glu204Lys) rs751438050 0.00003
NM_018706.7(DHTKD1):c.626C>T (p.Ser209Leu) rs780598300 0.00003
NM_018706.7(DHTKD1):c.728G>A (p.Arg243His) rs781779430 0.00003
NM_018706.7(DHTKD1):c.892G>A (p.Val298Met) rs756540722 0.00003
NM_018706.7(DHTKD1):c.962C>T (p.Pro321Leu) rs755528865 0.00003
NM_018706.7(DHTKD1):c.1040C>T (p.Thr347Met) rs760006425 0.00002
NM_018706.7(DHTKD1):c.115G>A (p.Glu39Lys) rs757691933 0.00002
NM_018706.7(DHTKD1):c.1390G>A (p.Glu464Lys) rs751977848 0.00002
NM_018706.7(DHTKD1):c.1742C>G (p.Ser581Cys) rs1348311643 0.00002
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) rs375292909 0.00002
NM_018706.7(DHTKD1):c.1853T>A (p.Ile618Asn) rs761295635 0.00002
NM_018706.7(DHTKD1):c.2104G>A (p.Asp702Asn) rs151226045 0.00002
NM_018706.7(DHTKD1):c.22G>A (p.Ala8Thr) rs371803487 0.00002
NM_018706.7(DHTKD1):c.235G>A (p.Gly79Arg) rs752172609 0.00002
NM_018706.7(DHTKD1):c.2377G>A (p.Gly793Ser) rs376837792 0.00002
NM_018706.7(DHTKD1):c.2390T>C (p.Val797Ala) rs545835536 0.00002
NM_018706.7(DHTKD1):c.2429G>A (p.Gly810Asp) rs781524340 0.00002
NM_018706.7(DHTKD1):c.2456A>G (p.Gln819Arg) rs749073861 0.00002
NM_018706.7(DHTKD1):c.259C>T (p.Pro87Ser) rs201207624 0.00002
NM_018706.7(DHTKD1):c.2658+2del rs1453191182 0.00002
NM_018706.7(DHTKD1):c.522+3A>G rs1204654576 0.00002
NM_018706.7(DHTKD1):c.613C>G (p.Leu205Val) rs756840826 0.00002
NM_018706.7(DHTKD1):c.614T>G (p.Leu205Arg) rs996258907 0.00002
NM_018706.7(DHTKD1):c.637G>A (p.Gly213Arg) rs545518487 0.00002
NM_018706.7(DHTKD1):c.64C>A (p.Arg22Ser) rs764415717 0.00002
NM_018706.7(DHTKD1):c.8C>G (p.Ser3Cys) rs765392621 0.00002
NM_018706.7(DHTKD1):c.931G>A (p.Gly311Ser) rs372367790 0.00002
NM_018706.7(DHTKD1):c.976A>G (p.Ile326Val) rs745602291 0.00002
NC_000010.11:g.12084537C>G rs761346066 0.00001
NM_018706.7(DHTKD1):c.1019G>T (p.Gly340Val) rs976767270 0.00001
NM_018706.7(DHTKD1):c.1081C>T (p.His361Tyr) rs567655402 0.00001
NM_018706.7(DHTKD1):c.1097A>G (p.Asn366Ser) rs372611695 0.00001
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) rs556384043 0.00001
NM_018706.7(DHTKD1):c.1150A>G (p.Ser384Gly) rs937030088 0.00001
NM_018706.7(DHTKD1):c.1150A>T (p.Ser384Cys) rs937030088 0.00001
NM_018706.7(DHTKD1):c.1159+4C>T rs376431681 0.00001
NM_018706.7(DHTKD1):c.1159+5G>A rs765325409 0.00001
NM_018706.7(DHTKD1):c.1186C>T (p.His396Tyr) rs376642629 0.00001
NM_018706.7(DHTKD1):c.1193A>G (p.Asn398Ser) rs1179178456 0.00001
NM_018706.7(DHTKD1):c.1219C>T (p.Arg407Cys) rs779372510 0.00001
NM_018706.7(DHTKD1):c.1229G>A (p.Arg410Gln) rs748482829 0.00001
NM_018706.7(DHTKD1):c.1249C>T (p.Arg417Cys) rs759869851 0.00001
NM_018706.7(DHTKD1):c.1264G>A (p.Asp422Asn) rs1833033980 0.00001
NM_018706.7(DHTKD1):c.128C>G (p.Pro43Arg) rs1277649888 0.00001
NM_018706.7(DHTKD1):c.1307A>G (p.Asn436Ser) rs368119003 0.00001
NM_018706.7(DHTKD1):c.1315G>C (p.Asp439His) rs995123652 0.00001
NM_018706.7(DHTKD1):c.1454A>G (p.Tyr485Cys) rs1017447763 0.00001
NM_018706.7(DHTKD1):c.1477A>G (p.Asn493Asp) rs761255122 0.00001
NM_018706.7(DHTKD1):c.1497G>T (p.Arg499Ser) rs1833095490 0.00001
NM_018706.7(DHTKD1):c.1512C>A (p.Asn504Lys) rs1027831133 0.00001
NM_018706.7(DHTKD1):c.151C>G (p.Pro51Ala) rs563631393 0.00001
NM_018706.7(DHTKD1):c.154+6G>T rs1832611987 0.00001
NM_018706.7(DHTKD1):c.155-17A>G rs746248223 0.00001
NM_018706.7(DHTKD1):c.1553A>C (p.Gln518Pro) rs766964006 0.00001
NM_018706.7(DHTKD1):c.155T>C (p.Val52Ala) rs780763589 0.00001
NM_018706.7(DHTKD1):c.1585G>A (p.Asp529Asn) rs751439344 0.00001
NM_018706.7(DHTKD1):c.1630G>C (p.Glu544Gln) rs1193723684 0.00001
NM_018706.7(DHTKD1):c.1638G>C (p.Gln546His) rs770478241 0.00001
NM_018706.7(DHTKD1):c.163G>A (p.Gly55Ser) rs1832817599 0.00001
NM_018706.7(DHTKD1):c.1645A>G (p.Ser549Gly) rs1051083685 0.00001
NM_018706.7(DHTKD1):c.1647T>A (p.Ser549Arg) rs1316023812 0.00001
NM_018706.7(DHTKD1):c.1696G>A (p.Gly566Arg) rs761966951 0.00001
NM_018706.7(DHTKD1):c.1705C>G (p.Leu569Val) rs750307673 0.00001
NM_018706.7(DHTKD1):c.1709A>G (p.Asp570Gly) rs755956888 0.00001
NM_018706.7(DHTKD1):c.1710C>A (p.Asp570Glu) rs1833138164 0.00001
NM_018706.7(DHTKD1):c.1744T>G (p.Leu582Val) rs983914326 0.00001
NM_018706.7(DHTKD1):c.1757-3A>T rs1833160938 0.00001
NM_018706.7(DHTKD1):c.1793G>A (p.Arg598His) rs748717694 0.00001
NM_018706.7(DHTKD1):c.1819A>G (p.Ile607Val) rs1214366317 0.00001
NM_018706.7(DHTKD1):c.1846A>C (p.Thr616Pro) rs1186888662 0.00001
NM_018706.7(DHTKD1):c.1850A>C (p.Tyr617Ser) rs773859468 0.00001
NM_018706.7(DHTKD1):c.1864C>T (p.His622Tyr) rs1462585733 0.00001
NM_018706.7(DHTKD1):c.1886G>A (p.Gly629Glu) rs933926558 0.00001
NM_018706.7(DHTKD1):c.1889T>G (p.Phe630Cys) rs1259560868 0.00001
NM_018706.7(DHTKD1):c.1906A>G (p.Ser636Gly) rs1564396341 0.00001
NM_018706.7(DHTKD1):c.1927G>A (p.Val643Ile) rs371749570 0.00001
NM_018706.7(DHTKD1):c.1955T>C (p.Ile652Thr) rs1375785592 0.00001
NM_018706.7(DHTKD1):c.1981T>G (p.Trp661Gly) rs755428426 0.00001
NM_018706.7(DHTKD1):c.1995T>G (p.Phe665Leu) rs1346825143 0.00001
NM_018706.7(DHTKD1):c.2041T>A (p.Ser681Thr) rs374997973 0.00001
NM_018706.7(DHTKD1):c.2096A>G (p.His699Arg) rs773572824 0.00001
NM_018706.7(DHTKD1):c.2113G>A (p.Gly705Arg) rs549128233 0.00001
NM_018706.7(DHTKD1):c.2116C>T (p.Pro706Ser) rs763819099 0.00001
NM_018706.7(DHTKD1):c.2135G>A (p.Arg712Gln) rs755668251 0.00001
NM_018706.7(DHTKD1):c.2154G>A (p.Gln718=) rs747366922 0.00001
NM_018706.7(DHTKD1):c.2156T>G (p.Met719Arg) rs747421793 0.00001
NM_018706.7(DHTKD1):c.2168C>T (p.Ala723Val) rs746396418 0.00001
NM_018706.7(DHTKD1):c.2176G>C (p.Gly726Arg) rs763086542 0.00001
NM_018706.7(DHTKD1):c.2206G>A (p.Val736Met) rs761744657 0.00001
NM_018706.7(DHTKD1):c.2264G>A (p.Arg755Gln) rs780600921 0.00001
NM_018706.7(DHTKD1):c.2279C>G (p.Pro760Arg) rs774536665 0.00001
NM_018706.7(DHTKD1):c.227T>C (p.Leu76Pro) rs1183921646 0.00001
NM_018706.7(DHTKD1):c.2284_2286del (p.Ile762del) rs765370424 0.00001
NM_018706.7(DHTKD1):c.2285T>C (p.Ile762Thr) rs773205356 0.00001
NM_018706.7(DHTKD1):c.229T>G (p.Phe77Val) rs371209000 0.00001
NM_018706.7(DHTKD1):c.2326G>T (p.Val776Leu) rs200042516 0.00001
NM_018706.7(DHTKD1):c.232A>G (p.Thr78Ala) rs759441452 0.00001
NM_018706.7(DHTKD1):c.2362T>C (p.Phe788Leu) rs1232269945 0.00001
NM_018706.7(DHTKD1):c.2369C>T (p.Pro790Leu) rs776497952 0.00001
NM_018706.7(DHTKD1):c.2378G>A (p.Gly793Asp) rs762495948 0.00001
NM_018706.7(DHTKD1):c.2392G>T (p.Asp798Tyr) rs1466221488 0.00001
NM_018706.7(DHTKD1):c.2402+3A>G rs754298961 0.00001
NM_018706.7(DHTKD1):c.2403G>A (p.Lys801=) rs760356390 0.00001
NM_018706.7(DHTKD1):c.240A>C (p.Gln80His) rs1407480386 0.00001
NM_018706.7(DHTKD1):c.241G>A (p.Ala81Thr) rs763659313 0.00001
NM_018706.7(DHTKD1):c.2428G>A (p.Gly810Ser) rs757252285 0.00001
NM_018706.7(DHTKD1):c.2432A>G (p.Lys811Arg) rs750663649 0.00001
NM_018706.7(DHTKD1):c.2441A>G (p.Tyr814Cys) rs756286549 0.00001
NM_018706.7(DHTKD1):c.2465C>T (p.Ser822Phe) rs768650459 0.00001
NM_018706.7(DHTKD1):c.2482C>T (p.His828Tyr) rs1483009058 0.00001
NM_018706.7(DHTKD1):c.2494A>G (p.Ile832Val) rs1443098492 0.00001
NM_018706.7(DHTKD1):c.2518C>T (p.Pro840Ser) rs200098540 0.00001
NM_018706.7(DHTKD1):c.252G>C (p.Glu84Asp) rs930925223 0.00001
NM_018706.7(DHTKD1):c.2575C>T (p.His859Tyr) rs769419156 0.00001
NM_018706.7(DHTKD1):c.2611C>T (p.Pro871Ser) rs150960212 0.00001
NM_018706.7(DHTKD1):c.2623G>A (p.Val875Ile) rs1453197081 0.00001
NM_018706.7(DHTKD1):c.2627C>T (p.Ser876Phe) rs569696877 0.00001
NM_018706.7(DHTKD1):c.2668G>T (p.Val890Leu) rs1447581461 0.00001
NM_018706.7(DHTKD1):c.2695G>A (p.Ala899Thr) rs767599280 0.00001
NM_018706.7(DHTKD1):c.2713G>C (p.Val905Leu) rs1165213103 0.00001
NM_018706.7(DHTKD1):c.272C>T (p.Ala91Val) rs1131691629 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
NM_018706.7(DHTKD1):c.278T>C (p.Val93Ala) rs772184008 0.00001
NM_018706.7(DHTKD1):c.305C>T (p.Thr102Met) rs769632958 0.00001
NM_018706.7(DHTKD1):c.329A>G (p.Lys110Arg) rs369183622 0.00001
NM_018706.7(DHTKD1):c.337G>C (p.Ala113Pro) rs200967740 0.00001
NM_018706.7(DHTKD1):c.395T>C (p.Ile132Thr) rs1453624569 0.00001
NM_018706.7(DHTKD1):c.403T>G (p.Ser135Ala) rs755902715 0.00001
NM_018706.7(DHTKD1):c.423T>A (p.Asp141Glu) rs779927813 0.00001
NM_018706.7(DHTKD1):c.432C>A (p.Asp144Glu) rs555471579 0.00001
NM_018706.7(DHTKD1):c.497T>C (p.Leu166Pro) rs757387152 0.00001
NM_018706.7(DHTKD1):c.523-8T>G rs746534817 0.00001
NM_018706.7(DHTKD1):c.523G>C (p.Glu175Gln) rs1333426380 0.00001
NM_018706.7(DHTKD1):c.52C>T (p.Pro18Ser) rs1340734868 0.00001
NM_018706.7(DHTKD1):c.577G>A (p.Glu193Lys) rs1052367278 0.00001
NM_018706.7(DHTKD1):c.635G>A (p.Ser212Asn) rs141891410 0.00001
NM_018706.7(DHTKD1):c.649G>T (p.Val217Phe) rs146092898 0.00001
NM_018706.7(DHTKD1):c.698T>A (p.Leu233His) rs1220540503 0.00001
NM_018706.7(DHTKD1):c.761A>G (p.Asn254Ser) rs761570353 0.00001
NM_018706.7(DHTKD1):c.781G>A (p.Val261Ile) rs377037358 0.00001
NM_018706.7(DHTKD1):c.818T>C (p.Phe273Ser) rs553049198 0.00001
NM_018706.7(DHTKD1):c.824C>T (p.Ala275Val) rs374760148 0.00001
NM_018706.7(DHTKD1):c.841G>A (p.Val281Met) rs1832948740 0.00001
NM_018706.7(DHTKD1):c.851T>C (p.Leu284Ser) rs770862302 0.00001
NM_018706.7(DHTKD1):c.857A>G (p.Asn286Ser) rs759029764 0.00001
NM_018706.7(DHTKD1):c.877G>A (p.Val293Ile) rs917073942 0.00001
NM_018706.7(DHTKD1):c.886G>A (p.Val296Met) rs763791918 0.00001
NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe) rs777908204 0.00001
NM_018706.7(DHTKD1):c.934G>A (p.Asp312Asn) rs775089419 0.00001
NM_018706.7(DHTKD1):c.941C>T (p.Ser314Phe) rs1564391440 0.00001
NM_018706.7(DHTKD1):c.944C>T (p.Pro315Leu) rs762484525 0.00001
NM_018706.7(DHTKD1):c.94G>A (p.Gly32Ser) rs1202210849 0.00001
NM_018706.7(DHTKD1):c.953C>T (p.Ser318Leu) rs766731074 0.00001
NM_018706.7(DHTKD1):c.965G>C (p.Gly322Ala) rs200814440 0.00001
NM_018706.7(DHTKD1):c.970A>G (p.Arg324Gly) rs549007510 0.00001
NM_018706.7(DHTKD1):c.987G>C (p.Gln329His) rs1363866819 0.00001
NM_018706.7(DHTKD1):c.992A>G (p.His331Arg) rs1186786111 0.00001
NC_000010.10:g.(?_12111013)_(12162907_?)dup
NC_000010.10:g.(?_12111033)_(12111206_?)dup
NC_000010.10:g.(?_12111033)_(12155083_?)dup
NC_000010.10:g.(?_12111033)_(12159774_?)dup
NC_000010.10:g.(?_12111033)_(12162887_?)dup
NC_000010.10:g.(?_12123451)_(12123646_?)del
NC_000010.10:g.(?_12123451)_(12133703_?)del
NC_000010.10:g.(?_12123451)_(12133703_?)dup
NC_000010.10:g.(?_12123451)_(12162887_?)dup
NC_000010.10:g.(?_12129514)_(12162887_?)dup
NC_000010.10:g.(?_12139663)_(12162887_?)del
NC_000010.10:g.(?_12148225)_(12150034_?)del
NC_000010.10:g.(?_12148225)_(12155083_?)dup
NC_000010.10:g.(?_12159652)_(12162286_?)del
NC_000010.10:g.(?_12159652)_(12162887_?)dup
NC_000010.10:g.(?_12160728)_(12162887_?)dup
NC_000010.10:g.(?_12162161)_(12162887_?)del
NC_000010.11:g.(?_12118729)_(12120287_?)del
NM_018706.7(DHTKD1):c.1031A>G (p.Glu344Gly)
NM_018706.7(DHTKD1):c.1037T>C (p.Phe346Ser) rs2131360674
NM_018706.7(DHTKD1):c.1049A>G (p.Asn350Ser)
NM_018706.7(DHTKD1):c.1055C>G (p.Pro352Arg) rs2491481693
NM_018706.7(DHTKD1):c.1067T>C (p.Ile356Thr) rs1250819676
NM_018706.7(DHTKD1):c.1076G>T (p.Ser359Ile)
NM_018706.7(DHTKD1):c.1099C>G (p.Gln367Glu) rs2491482030
NM_018706.7(DHTKD1):c.1101G>C (p.Gln367His)
NM_018706.7(DHTKD1):c.1129G>A (p.Gly377Arg)
NM_018706.7(DHTKD1):c.113C>G (p.Pro38Arg) rs747745404
NM_018706.7(DHTKD1):c.115G>C (p.Glu39Gln)
NM_018706.7(DHTKD1):c.1160-17G>A rs1173092599
NM_018706.7(DHTKD1):c.116A>G (p.Glu39Gly) rs1426707768
NM_018706.7(DHTKD1):c.1180A>G (p.Ile394Val) rs776977187
NM_018706.7(DHTKD1):c.1187A>G (p.His396Arg)
NM_018706.7(DHTKD1):c.1201A>G (p.Ser401Gly)
NM_018706.7(DHTKD1):c.1223C>T (p.Ala408Val) rs1564392988
NM_018706.7(DHTKD1):c.1225A>T (p.Thr409Ser) rs2491486220
NM_018706.7(DHTKD1):c.1226C>T (p.Thr409Ile)
NM_018706.7(DHTKD1):c.124G>A (p.Glu42Lys) rs2491445844
NM_018706.7(DHTKD1):c.1250G>A (p.Arg417His) rs1489239885
NM_018706.7(DHTKD1):c.1259G>A (p.Arg420His) rs200039178
NM_018706.7(DHTKD1):c.1259G>T (p.Arg420Leu) rs200039178
NM_018706.7(DHTKD1):c.1266T>A (p.Asp422Glu) rs1833034016
NM_018706.7(DHTKD1):c.1267G>A (p.Val423Met) rs761350668
NM_018706.7(DHTKD1):c.1270ATT[1] (p.Ile425del)
NM_018706.7(DHTKD1):c.127C>A (p.Pro43Thr) rs2131342394
NM_018706.7(DHTKD1):c.1293G>C (p.Arg431Ser)
NM_018706.7(DHTKD1):c.1295A>G (p.Gln432Arg)
NM_018706.7(DHTKD1):c.1301G>A (p.Gly434Asp)
NM_018706.7(DHTKD1):c.1339A>G (p.Ile447Val) rs762716813
NM_018706.7(DHTKD1):c.1382C>A (p.Thr461Lys) rs201559023
NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg) rs201559023
NM_018706.7(DHTKD1):c.1384T>C (p.Tyr462His) rs2491491528
NM_018706.7(DHTKD1):c.1394A>T (p.His465Leu) rs2131365248
NM_018706.7(DHTKD1):c.1399A>G (p.Ile467Val) rs2491491550
NM_018706.7(DHTKD1):c.1402G>A (p.Ala468Thr) rs756190281
NM_018706.7(DHTKD1):c.1409G>T (p.Gly470Val)
NM_018706.7(DHTKD1):c.1432T>A (p.Ser478Thr) rs2131365279
NM_018706.7(DHTKD1):c.1450T>C (p.Tyr484His) rs922732733
NM_018706.7(DHTKD1):c.1496G>A (p.Arg499Lys) rs2491491748
NM_018706.7(DHTKD1):c.1498C>G (p.Pro500Ala) rs2491491752
NM_018706.7(DHTKD1):c.1505C>T (p.Ala502Val) rs2491491772
NM_018706.7(DHTKD1):c.1508T>C (p.Leu503Pro) rs1833095845
NM_018706.7(DHTKD1):c.1523A>G (p.His508Arg)
NM_018706.7(DHTKD1):c.152C>A (p.Pro51Gln) rs768842115
NM_018706.7(DHTKD1):c.1537G>C (p.Ala513Pro) rs2491491835
NM_018706.7(DHTKD1):c.153A>T (p.Pro51=) rs2491445944
NM_018706.7(DHTKD1):c.1542G>T (p.Gln514His) rs2491491838
NM_018706.7(DHTKD1):c.1543C>T (p.Pro515Ser)
NM_018706.7(DHTKD1):c.154G>A (p.Val52Ile) rs543147905
NM_018706.7(DHTKD1):c.1562C>G (p.Thr521Ser) rs1833097538
NM_018706.7(DHTKD1):c.1580C>T (p.Pro527Leu) rs2491491985
NM_018706.7(DHTKD1):c.1591C>A (p.Leu531Met)
NM_018706.7(DHTKD1):c.1595G>A (p.Arg532Gln)
NM_018706.7(DHTKD1):c.1604G>A (p.Gly535Asp) rs769818273
NM_018706.7(DHTKD1):c.160C>T (p.His54Tyr) rs2491465516
NM_018706.7(DHTKD1):c.1624C>T (p.Pro542Ser) rs1450632093
NM_018706.7(DHTKD1):c.1648C>T (p.His550Tyr)
NM_018706.7(DHTKD1):c.1664A>C (p.His555Pro) rs1432183584
NM_018706.7(DHTKD1):c.1664A>G (p.His555Arg) rs1432183584
NM_018706.7(DHTKD1):c.1671+3G>T rs369606311
NM_018706.7(DHTKD1):c.1680G>A (p.Met560Ile)
NM_018706.7(DHTKD1):c.1685A>G (p.Lys562Arg) rs2131367049
NM_018706.7(DHTKD1):c.1688T>A (p.Met563Lys)
NM_018706.7(DHTKD1):c.1688T>C (p.Met563Thr)
NM_018706.7(DHTKD1):c.1709A>T (p.Asp570Val) rs755956888
NM_018706.7(DHTKD1):c.1711T>C (p.Trp571Arg) rs766464907
NM_018706.7(DHTKD1):c.1753C>G (p.Gln585Glu) rs2491494910
NM_018706.7(DHTKD1):c.1757-3A>G
NM_018706.7(DHTKD1):c.1760T>C (p.Phe587Ser)
NM_018706.7(DHTKD1):c.1769G>A (p.Arg590His) rs139836411
NM_018706.7(DHTKD1):c.1769G>T (p.Arg590Leu) rs139836411
NM_018706.7(DHTKD1):c.1790G>A (p.Gly597Asp) rs2491496772
NM_018706.7(DHTKD1):c.1813C>T (p.His605Tyr) rs201356317
NM_018706.7(DHTKD1):c.1826T>C (p.Val609Ala) rs2491496850
NM_018706.7(DHTKD1):c.1843G>A (p.Asp615Asn) rs2491496878
NM_018706.7(DHTKD1):c.1846A>G (p.Thr616Ala) rs1186888662
NM_018706.7(DHTKD1):c.1847C>T (p.Thr616Ile) rs1833163094
NM_018706.7(DHTKD1):c.188A>T (p.Tyr63Phe) rs768895085
NM_018706.7(DHTKD1):c.190T>C (p.Cys64Arg) rs1564389131
NM_018706.7(DHTKD1):c.1910_1911delinsGC (p.Pro637Arg) rs2131619564
NM_018706.7(DHTKD1):c.1911_1912delinsCA (p.Leu638Met) rs2491503439
NM_018706.7(DHTKD1):c.1913T>C (p.Leu638Pro) rs1234316880
NM_018706.7(DHTKD1):c.1916C>T (p.Ser639Leu)
NM_018706.7(DHTKD1):c.1938T>A (p.Phe646Leu) rs1615510
NM_018706.7(DHTKD1):c.193G>C (p.Glu65Gln) rs1389298222
NM_018706.7(DHTKD1):c.1950G>A (p.Met650Ile) rs1833246236
NM_018706.7(DHTKD1):c.1952G>A (p.Ser651Asn) rs1833246281
NM_018706.7(DHTKD1):c.1961G>A (p.Ser654Asn) rs748103025
NM_018706.7(DHTKD1):c.1987_1988delinsAG (p.Ala663Arg) rs2491503832
NM_018706.7(DHTKD1):c.1997G>A (p.Gly666Asp) rs2491503851
NM_018706.7(DHTKD1):c.1999G>C (p.Asp667His) rs371485560
NM_018706.7(DHTKD1):c.1999G>T (p.Asp667Tyr)
NM_018706.7(DHTKD1):c.2005T>C (p.Phe669Leu)
NM_018706.7(DHTKD1):c.2012G>A (p.Gly671Asp) rs2491503898
NM_018706.7(DHTKD1):c.2014G>A (p.Ala672Thr) rs2131619684
NM_018706.7(DHTKD1):c.2018A>G (p.Gln673Arg) rs1833247558
NM_018706.7(DHTKD1):c.2023A>G (p.Ile675Val) rs2491503929
NM_018706.7(DHTKD1):c.2032A>G (p.Thr678Ala) rs1046306649
NM_018706.7(DHTKD1):c.2047+18G>A rs371423049
NM_018706.7(DHTKD1):c.2048G>T (p.Gly683Val) rs2491506705
NM_018706.7(DHTKD1):c.2061G>C (p.Trp687Cys)
NM_018706.7(DHTKD1):c.2062C>T (p.Leu688Phe) rs2131620901
NM_018706.7(DHTKD1):c.2079_2080delinsTT (p.Val694Phe) rs2491506761
NM_018706.7(DHTKD1):c.2095C>G (p.His699Asp) rs2491506795
NM_018706.7(DHTKD1):c.209C>A (p.Ala70Asp) rs34644609
NM_018706.7(DHTKD1):c.2106T>G (p.Asp702Glu) rs759597069
NM_018706.7(DHTKD1):c.2110G>T (p.Ala704Ser) rs1354505166
NM_018706.7(DHTKD1):c.212C>T (p.Ala71Val) rs1832818600
NM_018706.7(DHTKD1):c.2137A>T (p.Ile713Leu)
NM_018706.7(DHTKD1):c.2140G>C (p.Glu714Gln) rs1833276318
NM_018706.7(DHTKD1):c.2155-3C>T rs2131624128
NM_018706.7(DHTKD1):c.2162A>G (p.Asp721Gly)
NM_018706.7(DHTKD1):c.2164A>G (p.Ser722Gly)
NM_018706.7(DHTKD1):c.2166T>G (p.Ser722Arg) rs781496346
NM_018706.7(DHTKD1):c.2175G>C (p.Glu725Asp) rs775438065
NM_018706.7(DHTKD1):c.2175G>T (p.Glu725Asp) rs775438065
NM_018706.7(DHTKD1):c.2176G>A (p.Gly726Arg)
NM_018706.7(DHTKD1):c.2194G>A (p.Val732Met) rs2491513587
NM_018706.7(DHTKD1):c.2228C>A (p.Ala743Glu)
NM_018706.7(DHTKD1):c.2233T>C (p.Tyr745His) rs2491513672
NM_018706.7(DHTKD1):c.2242T>G (p.Leu748Val) rs1348011316
NM_018706.7(DHTKD1):c.2252_2266del (p.Arg751_Arg755del) rs1833358229
NM_018706.7(DHTKD1):c.2261T>A (p.Val754Asp) rs2491513788
NM_018706.7(DHTKD1):c.2264G>C (p.Arg755Pro) rs780600921
NM_018706.7(DHTKD1):c.2276A>G (p.Lys759Arg)
NM_018706.7(DHTKD1):c.2284A>G (p.Ile762Val) rs2131624242
NM_018706.7(DHTKD1):c.2296C>G (p.Pro766Ala) rs2491513864
NM_018706.7(DHTKD1):c.2326G>A (p.Val776Met) rs200042516
NM_018706.7(DHTKD1):c.233C>T (p.Thr78Ile)
NM_018706.7(DHTKD1):c.2345T>C (p.Met782Thr)
NM_018706.7(DHTKD1):c.2351C>T (p.Pro784Leu) rs1833442586
NM_018706.7(DHTKD1):c.2356A>G (p.Thr786Ala) rs1833442782
NM_018706.7(DHTKD1):c.2356ACA[1] (p.Thr787del) rs563856629
NM_018706.7(DHTKD1):c.2374A>T (p.Ile792Phe) rs769789126
NM_018706.7(DHTKD1):c.239A>C (p.Gln80Pro) rs2491465761
NM_018706.7(DHTKD1):c.2403-3C>A rs1833466324
NM_018706.7(DHTKD1):c.2416G>A (p.Val806Met) rs763567671
NM_018706.7(DHTKD1):c.2425T>C (p.Ser809Pro) rs1833466869
NM_018706.7(DHTKD1):c.2440T>G (p.Tyr814Asp)
NM_018706.7(DHTKD1):c.2447T>C (p.Leu816Pro) rs1833467337
NM_018706.7(DHTKD1):c.2470G>A (p.Gly824Arg) rs771506788
NM_018706.7(DHTKD1):c.2497A>G (p.Ile833Val) rs972227565
NM_018706.7(DHTKD1):c.2501G>A (p.Arg834Gln)
NM_018706.7(DHTKD1):c.2523C>A (p.Phe841Leu) rs12769375
NM_018706.7(DHTKD1):c.2549T>C (p.Met850Thr) rs2491523398
NM_018706.7(DHTKD1):c.2571A>G (p.Lys857=) rs1420964907
NM_018706.7(DHTKD1):c.2572+5G>A rs1833469793
NM_018706.7(DHTKD1):c.2572G>A (p.Asp858Asn) rs1464658048
NM_018706.7(DHTKD1):c.2573A>C (p.Asp858Ala) rs2491527486
NM_018706.7(DHTKD1):c.2575C>A (p.His859Asn) rs769419156
NM_018706.7(DHTKD1):c.2604dup (p.Met869fs) rs2491527559
NM_018706.7(DHTKD1):c.2614T>C (p.Trp872Arg) rs1021701691
NM_018706.7(DHTKD1):c.2650G>C (p.Ala884Pro) rs749888809
NM_018706.7(DHTKD1):c.2658+1G>T rs1564400797
NM_018706.7(DHTKD1):c.2662C>A (p.Arg888Ser) rs143212640
NM_018706.7(DHTKD1):c.2662C>T (p.Arg888Cys) rs143212640
NM_018706.7(DHTKD1):c.2663G>A (p.Arg888His) rs757827550
NM_018706.7(DHTKD1):c.2675G>A (p.Arg892Gln) rs574614585
NM_018706.7(DHTKD1):c.2675G>T (p.Arg892Leu) rs574614585
NM_018706.7(DHTKD1):c.2684T>G (p.Leu895Trp) rs2131631166
NM_018706.7(DHTKD1):c.2685G>C (p.Leu895Phe) rs890522994
NM_018706.7(DHTKD1):c.2686C>T (p.Pro896Ser) rs1833515167
NM_018706.7(DHTKD1):c.2717A>G (p.His906Arg) rs2491529067
NM_018706.7(DHTKD1):c.2718C>A (p.His906Gln) rs2491529070
NM_018706.7(DHTKD1):c.2727G>T (p.Gln909His) rs376986154
NM_018706.7(DHTKD1):c.2729A>G (p.His910Arg)
NM_018706.7(DHTKD1):c.2743G>C (p.Ala915Pro) rs373277244
NM_018706.7(DHTKD1):c.2750C>G (p.Thr917Ser) rs900369188
NM_018706.7(DHTKD1):c.287T>C (p.Leu96Pro) rs140768224
NM_018706.7(DHTKD1):c.289C>A (p.Gln97Lys) rs2491465841
NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg) rs760903542
NM_018706.7(DHTKD1):c.326G>A (p.Gly109Glu) rs759872323
NM_018706.7(DHTKD1):c.353T>C (p.Val118Ala)
NM_018706.7(DHTKD1):c.35G>T (p.Gly12Val)
NM_018706.7(DHTKD1):c.368A>G (p.Asn123Ser)
NM_018706.7(DHTKD1):c.377A>G (p.Tyr126Cys) rs1158929419
NM_018706.7(DHTKD1):c.385C>A (p.Gln129Lys)
NM_018706.7(DHTKD1):c.401C>T (p.Thr134Ile) rs185240347
NM_018706.7(DHTKD1):c.40G>C (p.Gly14Arg) rs146881212
NM_018706.7(DHTKD1):c.40G>T (p.Gly14Cys) rs146881212
NM_018706.7(DHTKD1):c.41G>C (p.Gly14Ala) rs747408194
NM_018706.7(DHTKD1):c.443A>G (p.Lys148Arg) rs141676270
NM_018706.7(DHTKD1):c.445C>T (p.Arg149Trp) rs141125831
NM_018706.7(DHTKD1):c.458T>G (p.Leu153Arg) rs1253117210
NM_018706.7(DHTKD1):c.464A>G (p.Lys155Arg)
NM_018706.7(DHTKD1):c.465G>T (p.Lys155Asn) rs2491471084
NM_018706.7(DHTKD1):c.46G>A (p.Ala16Thr) rs1197904169
NM_018706.7(DHTKD1):c.49C>T (p.Leu17Phe) rs771198330
NM_018706.7(DHTKD1):c.509T>G (p.Met170Arg) rs1270383291
NM_018706.7(DHTKD1):c.523-3C>T rs1322072518
NM_018706.7(DHTKD1):c.525G>T (p.Glu175Asp)
NM_018706.7(DHTKD1):c.548A>C (p.Lys183Thr)
NM_018706.7(DHTKD1):c.559G>C (p.Val187Leu) rs2491474959
NM_018706.7(DHTKD1):c.569A>T (p.Tyr190Phe) rs773584681
NM_018706.7(DHTKD1):c.608A>G (p.His203Arg) rs2131357346
NM_018706.7(DHTKD1):c.624G>A (p.Met208Ile) rs1450826712
NM_018706.7(DHTKD1):c.643A>G (p.Thr215Ala)
NM_018706.7(DHTKD1):c.649G>A (p.Val217Ile) rs146092898
NM_018706.7(DHTKD1):c.691A>G (p.Thr231Ala) rs2491475213
NM_018706.7(DHTKD1):c.700C>A (p.Leu234Met) rs140003684
NM_018706.7(DHTKD1):c.700_701delinsGG (p.Leu234Gly) rs2131357438
NM_018706.7(DHTKD1):c.710C>T (p.Pro237Leu) rs2491475245
NM_018706.7(DHTKD1):c.718-4A>G rs772236981
NM_018706.7(DHTKD1):c.719T>C (p.Leu240Pro)
NM_018706.7(DHTKD1):c.721A>G (p.Met241Val) rs149066296
NM_018706.7(DHTKD1):c.728G>T (p.Arg243Leu) rs781779430
NM_018706.7(DHTKD1):c.737G>A (p.Arg246Gln) rs367981696
NM_018706.7(DHTKD1):c.737G>C (p.Arg246Pro) rs367981696
NM_018706.7(DHTKD1):c.74A>C (p.Gln25Pro)
NM_018706.7(DHTKD1):c.773C>G (p.Thr258Ser) rs2491476737
NM_018706.7(DHTKD1):c.800C>A (p.Ser267Tyr) rs764869852
NM_018706.7(DHTKD1):c.817T>C (p.Phe273Leu) rs1832948298
NM_018706.7(DHTKD1):c.823G>T (p.Ala275Ser) rs756701886
NM_018706.7(DHTKD1):c.831T>G (p.His277Gln) rs779049645
NM_018706.7(DHTKD1):c.847A>T (p.Met283Leu) rs145337285
NM_018706.7(DHTKD1):c.890C>T (p.Ala297Val) rs1832949989
NM_018706.7(DHTKD1):c.904C>T (p.Arg302Cys)
NM_018706.7(DHTKD1):c.905G>A (p.Arg302His) rs2491477219
NM_018706.7(DHTKD1):c.907G>A (p.Gly303Ser) rs748174586
NM_018706.7(DHTKD1):c.908G>T (p.Gly303Val) rs2491477230
NM_018706.7(DHTKD1):c.915G>C (p.Gln305His) rs200922071
NM_018706.7(DHTKD1):c.926A>C (p.Gln309Pro)
NM_018706.7(DHTKD1):c.950A>C (p.Asn317Thr)
NM_018706.7(DHTKD1):c.962C>A (p.Pro321Gln) rs755528865
NM_018706.7(DHTKD1):c.967G>A (p.Asp323Asn) rs529235889
NM_018706.7(DHTKD1):c.981C>G (p.Cys327Trp) rs1350182096
NM_018706.7(DHTKD1):c.987+4C>T rs780133904

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