ClinVar Miner

List of variants reported as uncertain significance for 2-aminoadipic 2-oxoadipic aciduria

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 389
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) rs78189904 0.00074
NM_018706.7(DHTKD1):c.1300G>A (p.Gly434Ser) rs145036232 0.00056
NM_018706.7(DHTKD1):c.2319G>A (p.Pro773=) rs145738102 0.00036
NM_018706.7(DHTKD1):c.847A>G (p.Met283Val) rs145337285 0.00021
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln) rs142068634 0.00016
NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr) rs199643928 0.00011
NM_018706.7(DHTKD1):c.307G>T (p.Ala103Ser) rs35442324 0.00011
NM_018706.7(DHTKD1):c.2525C>T (p.Pro842Leu) rs374419452 0.00010
NM_018706.7(DHTKD1):c.922C>T (p.Arg308Cys) rs377213027 0.00009
NM_018706.7(DHTKD1):c.1326C>G (p.Phe442Leu) rs781444343 0.00008
NM_018706.7(DHTKD1):c.1671+3G>A rs369606311 0.00007
NM_018706.7(DHTKD1):c.718-5A>G rs374421488 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.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.1721C>T (p.Ala574Val) rs757993723 0.00004
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr) rs539692445 0.00004
NM_018706.7(DHTKD1):c.2332A>G (p.Thr778Ala) rs138115346 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.962C>T (p.Pro321Leu) rs755528865 0.00004
NM_018706.7(DHTKD1):c.1093A>T (p.Asn365Tyr) rs747758630 0.00003
NM_018706.7(DHTKD1):c.2008A>G (p.Asn670Asp) rs149034097 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.305C>T (p.Thr102Met) rs769632958 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.1040C>T (p.Thr347Met) rs760006425 0.00002
NM_018706.7(DHTKD1):c.115G>A (p.Glu39Lys) rs757691933 0.00002
NM_018706.7(DHTKD1):c.1258C>T (p.Arg420Cys) rs762746645 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.22G>A (p.Ala8Thr) rs371803487 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.2658+2del rs1453191182 0.00002
NM_018706.7(DHTKD1):c.2695G>A (p.Ala899Thr) rs767599280 0.00002
NM_018706.7(DHTKD1):c.432C>A (p.Asp144Glu) rs555471579 0.00002
NM_018706.7(DHTKD1):c.614T>G (p.Leu205Arg) rs996258907 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.976A>G (p.Ile326Val) rs745602291 0.00002
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) rs556384043 0.00001
NM_018706.7(DHTKD1):c.1159+4C>T rs376431681 0.00001
NM_018706.7(DHTKD1):c.1229G>A (p.Arg410Gln) rs748482829 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.1477A>G (p.Asn493Asp) rs761255122 0.00001
NM_018706.7(DHTKD1):c.155-17A>G rs746248223 0.00001
NM_018706.7(DHTKD1):c.1850A>C (p.Tyr617Ser) rs773859468 0.00001
NM_018706.7(DHTKD1):c.1981T>G (p.Trp661Gly) rs755428426 0.00001
NM_018706.7(DHTKD1):c.2135G>A (p.Arg712Gln) rs755668251 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.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.2402+3A>G rs754298961 0.00001
NM_018706.7(DHTKD1):c.240A>C (p.Gln80His) rs1407480386 0.00001
NM_018706.7(DHTKD1):c.2465C>T (p.Ser822Phe) rs768650459 0.00001
NM_018706.7(DHTKD1):c.2611C>T (p.Pro871Ser) rs150960212 0.00001
NM_018706.7(DHTKD1):c.2627C>T (p.Ser876Phe) rs569696877 0.00001
NM_018706.7(DHTKD1):c.2740C>G (p.Leu914Val) rs200646026 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
NM_018706.7(DHTKD1):c.311-3C>G rs761346066 0.00001
NM_018706.7(DHTKD1):c.403T>G (p.Ser135Ala) rs755902715 0.00001
NM_018706.7(DHTKD1):c.522+3A>G rs1204654576 0.00001
NM_018706.7(DHTKD1):c.577G>A (p.Glu193Lys) rs1052367278 0.00001
NM_018706.7(DHTKD1):c.824C>T (p.Ala275Val) rs374760148 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.931G>A (p.Gly311Ser) rs372367790 0.00001
NM_018706.7(DHTKD1):c.965G>C (p.Gly322Ala) rs200814440 0.00001
NC_000010.10:g.(?_12111013)_(12162907_?)dup
NC_000010.10:g.(?_12111033)_(12111206_?)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.(?_12129514)_(12162887_?)dup
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.(?_12162161)_(12162887_?)del
NC_000010.11:g.(?_12118729)_(12120287_?)del
NM_018706.7(DHTKD1):c.100C>A (p.Arg34=) rs1195184698
NM_018706.7(DHTKD1):c.1019G>T (p.Gly340Val)
NM_018706.7(DHTKD1):c.1037T>C (p.Phe346Ser) rs2131360674
NM_018706.7(DHTKD1):c.1055C>G (p.Pro352Arg)
NM_018706.7(DHTKD1):c.1067T>C (p.Ile356Thr) rs1250819676
NM_018706.7(DHTKD1):c.1081C>T (p.His361Tyr)
NM_018706.7(DHTKD1):c.1097A>G (p.Asn366Ser)
NM_018706.7(DHTKD1):c.1099C>G (p.Gln367Glu)
NM_018706.7(DHTKD1):c.113C>G (p.Pro38Arg)
NM_018706.7(DHTKD1):c.1150A>G (p.Ser384Gly)
NM_018706.7(DHTKD1):c.1150A>T (p.Ser384Cys)
NM_018706.7(DHTKD1):c.1159+5G>A
NM_018706.7(DHTKD1):c.1160-17G>A
NM_018706.7(DHTKD1):c.116A>G (p.Glu39Gly)
NM_018706.7(DHTKD1):c.1180A>G (p.Ile394Val) rs776977187
NM_018706.7(DHTKD1):c.1186C>T (p.His396Tyr)
NM_018706.7(DHTKD1):c.1193A>G (p.Asn398Ser)
NM_018706.7(DHTKD1):c.1219C>T (p.Arg407Cys)
NM_018706.7(DHTKD1):c.1223C>T (p.Ala408Val) rs1564392988
NM_018706.7(DHTKD1):c.1225A>T (p.Thr409Ser)
NM_018706.7(DHTKD1):c.1249C>T (p.Arg417Cys)
NM_018706.7(DHTKD1):c.124G>A (p.Glu42Lys)
NM_018706.7(DHTKD1):c.1250G>A (p.Arg417His)
NM_018706.7(DHTKD1):c.1259G>A (p.Arg420His) rs200039178
NM_018706.7(DHTKD1):c.1264G>A (p.Asp422Asn)
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.127C>A (p.Pro43Thr) rs2131342394
NM_018706.7(DHTKD1):c.1339A>G (p.Ile447Val)
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)
NM_018706.7(DHTKD1):c.1390G>A (p.Glu464Lys)
NM_018706.7(DHTKD1):c.1394A>T (p.His465Leu) rs2131365248
NM_018706.7(DHTKD1):c.1399A>G (p.Ile467Val)
NM_018706.7(DHTKD1):c.1402G>A (p.Ala468Thr) rs756190281
NM_018706.7(DHTKD1):c.1418C>T (p.Thr473Met)
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.1454A>G (p.Tyr485Cys)
NM_018706.7(DHTKD1):c.1496G>A (p.Arg499Lys)
NM_018706.7(DHTKD1):c.1497G>T (p.Arg499Ser)
NM_018706.7(DHTKD1):c.1498C>G (p.Pro500Ala)
NM_018706.7(DHTKD1):c.1505C>T (p.Ala502Val)
NM_018706.7(DHTKD1):c.1508T>C (p.Leu503Pro) rs1833095845
NM_018706.7(DHTKD1):c.1512C>A (p.Asn504Lys)
NM_018706.7(DHTKD1):c.151C>G (p.Pro51Ala)
NM_018706.7(DHTKD1):c.152C>A (p.Pro51Gln)
NM_018706.7(DHTKD1):c.1531G>C (p.Gly511Arg)
NM_018706.7(DHTKD1):c.1537G>C (p.Ala513Pro)
NM_018706.7(DHTKD1):c.153A>T (p.Pro51=)
NM_018706.7(DHTKD1):c.154+6G>T
NM_018706.7(DHTKD1):c.154+8A>G
NM_018706.7(DHTKD1):c.1542G>T (p.Gln514His)
NM_018706.7(DHTKD1):c.154G>A (p.Val52Ile)
NM_018706.7(DHTKD1):c.1553A>C (p.Gln518Pro)
NM_018706.7(DHTKD1):c.155T>C (p.Val52Ala)
NM_018706.7(DHTKD1):c.1562C>G (p.Thr521Ser)
NM_018706.7(DHTKD1):c.1573G>A (p.Gly525Ser) rs1588612342
NM_018706.7(DHTKD1):c.1580C>T (p.Pro527Leu)
NM_018706.7(DHTKD1):c.1585G>A (p.Asp529Asn)
NM_018706.7(DHTKD1):c.1604G>A (p.Gly535Asp)
NM_018706.7(DHTKD1):c.160C>T (p.His54Tyr)
NM_018706.7(DHTKD1):c.1624C>T (p.Pro542Ser)
NM_018706.7(DHTKD1):c.1630G>C (p.Glu544Gln)
NM_018706.7(DHTKD1):c.1638G>C (p.Gln546His)
NM_018706.7(DHTKD1):c.163G>A (p.Gly55Ser)
NM_018706.7(DHTKD1):c.1645A>G (p.Ser549Gly)
NM_018706.7(DHTKD1):c.1647T>A (p.Ser549Arg)
NM_018706.7(DHTKD1):c.1664A>C (p.His555Pro)
NM_018706.7(DHTKD1):c.1664A>G (p.His555Arg)
NM_018706.7(DHTKD1):c.1671+3G>T
NM_018706.7(DHTKD1):c.1685A>G (p.Lys562Arg) rs2131367049
NM_018706.7(DHTKD1):c.1696G>A (p.Gly566Arg)
NM_018706.7(DHTKD1):c.1705C>G (p.Leu569Val)
NM_018706.7(DHTKD1):c.1709A>G (p.Asp570Gly)
NM_018706.7(DHTKD1):c.1709A>T (p.Asp570Val)
NM_018706.7(DHTKD1):c.1710C>A (p.Asp570Glu)
NM_018706.7(DHTKD1):c.1711T>C (p.Trp571Arg)
NM_018706.7(DHTKD1):c.1744T>G (p.Leu582Val)
NM_018706.7(DHTKD1):c.1753C>G (p.Gln585Glu)
NM_018706.7(DHTKD1):c.1757-3A>T
NM_018706.7(DHTKD1):c.1769G>A (p.Arg590His)
NM_018706.7(DHTKD1):c.1769G>T (p.Arg590Leu) rs139836411
NM_018706.7(DHTKD1):c.1790G>A (p.Gly597Asp)
NM_018706.7(DHTKD1):c.1793G>A (p.Arg598His)
NM_018706.7(DHTKD1):c.1813C>T (p.His605Tyr)
NM_018706.7(DHTKD1):c.1819A>G (p.Ile607Val)
NM_018706.7(DHTKD1):c.1826T>C (p.Val609Ala)
NM_018706.7(DHTKD1):c.1843G>A (p.Asp615Asn)
NM_018706.7(DHTKD1):c.1846A>C (p.Thr616Pro)
NM_018706.7(DHTKD1):c.1846A>G (p.Thr616Ala) rs1186888662
NM_018706.7(DHTKD1):c.1847C>T (p.Thr616Ile)
NM_018706.7(DHTKD1):c.1864C>T (p.His622Tyr) rs1462585733
NM_018706.7(DHTKD1):c.1886G>A (p.Gly629Glu) rs933926558
NM_018706.7(DHTKD1):c.188A>T (p.Tyr63Phe) rs768895085
NM_018706.7(DHTKD1):c.1906A>G (p.Ser636Gly)
NM_018706.7(DHTKD1):c.190T>C (p.Cys64Arg)
NM_018706.7(DHTKD1):c.1910_1911delinsGC (p.Pro637Arg) rs2131619564
NM_018706.7(DHTKD1):c.1911_1912delinsCA (p.Leu638Met)
NM_018706.7(DHTKD1):c.1913T>C (p.Leu638Pro)
NM_018706.7(DHTKD1):c.1927G>A (p.Val643Ile)
NM_018706.7(DHTKD1):c.1938T>A (p.Phe646Leu)
NM_018706.7(DHTKD1):c.1939G>A (p.Glu647Lys)
NM_018706.7(DHTKD1):c.193G>C (p.Glu65Gln)
NM_018706.7(DHTKD1):c.1950G>A (p.Met650Ile)
NM_018706.7(DHTKD1):c.1952G>A (p.Ser651Asn) rs1833246281
NM_018706.7(DHTKD1):c.1955T>C (p.Ile652Thr)
NM_018706.7(DHTKD1):c.1961G>A (p.Ser654Asn) rs748103025
NM_018706.7(DHTKD1):c.1987_1988delinsAG (p.Ala663Arg)
NM_018706.7(DHTKD1):c.1995T>G (p.Phe665Leu)
NM_018706.7(DHTKD1):c.1997G>A (p.Gly666Asp)
NM_018706.7(DHTKD1):c.1999G>C (p.Asp667His)
NM_018706.7(DHTKD1):c.2009A>G (p.Asn670Ser)
NM_018706.7(DHTKD1):c.2012G>A (p.Gly671Asp)
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)
NM_018706.7(DHTKD1):c.2032A>G (p.Thr678Ala)
NM_018706.7(DHTKD1):c.2041T>A (p.Ser681Thr)
NM_018706.7(DHTKD1):c.2047+18G>A
NM_018706.7(DHTKD1):c.2048G>T (p.Gly683Val)
NM_018706.7(DHTKD1):c.2062C>T (p.Leu688Phe) rs2131620901
NM_018706.7(DHTKD1):c.2079_2080delinsTT (p.Val694Phe)
NM_018706.7(DHTKD1):c.2095C>G (p.His699Asp)
NM_018706.7(DHTKD1):c.2096A>G (p.His699Arg)
NM_018706.7(DHTKD1):c.209C>A (p.Ala70Asp)
NM_018706.7(DHTKD1):c.2104G>A (p.Asp702Asn)
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.2113G>A (p.Gly705Arg)
NM_018706.7(DHTKD1):c.2116C>T (p.Pro706Ser)
NM_018706.7(DHTKD1):c.212C>T (p.Ala71Val)
NM_018706.7(DHTKD1):c.2140G>C (p.Glu714Gln)
NM_018706.7(DHTKD1):c.2154G>A (p.Gln718=)
NM_018706.7(DHTKD1):c.2155-3C>T rs2131624128
NM_018706.7(DHTKD1):c.2156T>G (p.Met719Arg)
NM_018706.7(DHTKD1):c.2166T>G (p.Ser722Arg)
NM_018706.7(DHTKD1):c.2168C>T (p.Ala723Val)
NM_018706.7(DHTKD1):c.2175G>C (p.Glu725Asp)
NM_018706.7(DHTKD1):c.2175G>T (p.Glu725Asp) rs775438065
NM_018706.7(DHTKD1):c.2194G>A (p.Val732Met)
NM_018706.7(DHTKD1):c.2233T>C (p.Tyr745His)
NM_018706.7(DHTKD1):c.2242T>G (p.Leu748Val)
NM_018706.7(DHTKD1):c.2252_2266del (p.Arg751_Arg755del) rs1833358229
NM_018706.7(DHTKD1):c.2261T>A (p.Val754Asp)
NM_018706.7(DHTKD1):c.2263C>T (p.Arg755Trp)
NM_018706.7(DHTKD1):c.2264G>A (p.Arg755Gln)
NM_018706.7(DHTKD1):c.2264G>C (p.Arg755Pro)
NM_018706.7(DHTKD1):c.2279C>G (p.Pro760Arg)
NM_018706.7(DHTKD1):c.227T>C (p.Leu76Pro)
NM_018706.7(DHTKD1):c.2284A>G (p.Ile762Val) rs2131624242
NM_018706.7(DHTKD1):c.2296C>G (p.Pro766Ala)
NM_018706.7(DHTKD1):c.232A>G (p.Thr78Ala)
NM_018706.7(DHTKD1):c.2351C>T (p.Pro784Leu)
NM_018706.7(DHTKD1):c.2356A>G (p.Thr786Ala)
NM_018706.7(DHTKD1):c.2356ACA[1] (p.Thr787del) rs563856629
NM_018706.7(DHTKD1):c.235G>A (p.Gly79Arg)
NM_018706.7(DHTKD1):c.2362T>C (p.Phe788Leu)
NM_018706.7(DHTKD1):c.2369C>T (p.Pro790Leu)
NM_018706.7(DHTKD1):c.2374A>T (p.Ile792Phe)
NM_018706.7(DHTKD1):c.2378G>A (p.Gly793Asp)
NM_018706.7(DHTKD1):c.2392G>T (p.Asp798Tyr)
NM_018706.7(DHTKD1):c.239A>C (p.Gln80Pro)
NM_018706.7(DHTKD1):c.2403-3C>A
NM_018706.7(DHTKD1):c.2403G>A (p.Lys801=)
NM_018706.7(DHTKD1):c.2416G>A (p.Val806Met)
NM_018706.7(DHTKD1):c.241G>A (p.Ala81Thr)
NM_018706.7(DHTKD1):c.2425T>C (p.Ser809Pro)
NM_018706.7(DHTKD1):c.2428G>A (p.Gly810Ser)
NM_018706.7(DHTKD1):c.2432A>G (p.Lys811Arg)
NM_018706.7(DHTKD1):c.2441A>G (p.Tyr814Cys)
NM_018706.7(DHTKD1):c.2447T>C (p.Leu816Pro)
NM_018706.7(DHTKD1):c.2470G>A (p.Gly824Arg)
NM_018706.7(DHTKD1):c.2482C>T (p.His828Tyr)
NM_018706.7(DHTKD1):c.2494A>G (p.Ile832Val)
NM_018706.7(DHTKD1):c.2497A>G (p.Ile833Val) rs972227565
NM_018706.7(DHTKD1):c.2518C>T (p.Pro840Ser)
NM_018706.7(DHTKD1):c.2523C>A (p.Phe841Leu)
NM_018706.7(DHTKD1):c.252G>C (p.Glu84Asp)
NM_018706.7(DHTKD1):c.2549T>C (p.Met850Thr)
NM_018706.7(DHTKD1):c.2566G>C (p.Val856Leu)
NM_018706.7(DHTKD1):c.2571A>G (p.Lys857=)
NM_018706.7(DHTKD1):c.2572+5G>A rs1833469793
NM_018706.7(DHTKD1):c.2572G>A (p.Asp858Asn)
NM_018706.7(DHTKD1):c.2573A>C (p.Asp858Ala)
NM_018706.7(DHTKD1):c.2575C>A (p.His859Asn) rs769419156
NM_018706.7(DHTKD1):c.2575C>T (p.His859Tyr)
NM_018706.7(DHTKD1):c.259C>T (p.Pro87Ser)
NM_018706.7(DHTKD1):c.2604dup (p.Met869fs)
NM_018706.7(DHTKD1):c.2614T>C (p.Trp872Arg) rs1021701691
NM_018706.7(DHTKD1):c.2623G>A (p.Val875Ile)
NM_018706.7(DHTKD1):c.2632A>G (p.Arg878Gly)
NM_018706.7(DHTKD1):c.2650G>C (p.Ala884Pro) rs749888809
NM_018706.7(DHTKD1):c.2658+1G>T
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.2668G>T (p.Val890Leu)
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)
NM_018706.7(DHTKD1):c.2686C>T (p.Pro896Ser) rs1833515167
NM_018706.7(DHTKD1):c.2689G>A (p.Val897Ile)
NM_018706.7(DHTKD1):c.2705T>C (p.Ile902Thr)
NM_018706.7(DHTKD1):c.2713G>C (p.Val905Leu)
NM_018706.7(DHTKD1):c.2717A>G (p.His906Arg)
NM_018706.7(DHTKD1):c.2718C>A (p.His906Gln)
NM_018706.7(DHTKD1):c.2727G>T (p.Gln909His)
NM_018706.7(DHTKD1):c.272C>T (p.Ala91Val) rs1131691629
NM_018706.7(DHTKD1):c.2743G>A (p.Ala915Thr)
NM_018706.7(DHTKD1):c.2743G>C (p.Ala915Pro)
NM_018706.7(DHTKD1):c.2750C>G (p.Thr917Ser)
NM_018706.7(DHTKD1):c.287T>C (p.Leu96Pro)
NM_018706.7(DHTKD1):c.289C>A (p.Gln97Lys)
NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg) rs760903542
NM_018706.7(DHTKD1):c.326G>A (p.Gly109Glu)
NM_018706.7(DHTKD1):c.329A>G (p.Lys110Arg)
NM_018706.7(DHTKD1):c.377A>G (p.Tyr126Cys)
NM_018706.7(DHTKD1):c.395T>C (p.Ile132Thr)
NM_018706.7(DHTKD1):c.401C>T (p.Thr134Ile)
NM_018706.7(DHTKD1):c.40G>C (p.Gly14Arg)
NM_018706.7(DHTKD1):c.40G>T (p.Gly14Cys)
NM_018706.7(DHTKD1):c.41G>C (p.Gly14Ala)
NM_018706.7(DHTKD1):c.423T>A (p.Asp141Glu)
NM_018706.7(DHTKD1):c.443A>G (p.Lys148Arg)
NM_018706.7(DHTKD1):c.445C>T (p.Arg149Trp) rs141125831
NM_018706.7(DHTKD1):c.451G>A (p.Glu151Lys)
NM_018706.7(DHTKD1):c.458T>G (p.Leu153Arg)
NM_018706.7(DHTKD1):c.465G>T (p.Lys155Asn)
NM_018706.7(DHTKD1):c.46G>A (p.Ala16Thr)
NM_018706.7(DHTKD1):c.497T>C (p.Leu166Pro)
NM_018706.7(DHTKD1):c.49C>T (p.Leu17Phe)
NM_018706.7(DHTKD1):c.509T>G (p.Met170Arg)
NM_018706.7(DHTKD1):c.523-3C>T
NM_018706.7(DHTKD1):c.523-8T>G
NM_018706.7(DHTKD1):c.523G>C (p.Glu175Gln)
NM_018706.7(DHTKD1):c.52C>T (p.Pro18Ser)
NM_018706.7(DHTKD1):c.554C>T (p.Ser185Leu)
NM_018706.7(DHTKD1):c.559G>C (p.Val187Leu)
NM_018706.7(DHTKD1):c.569A>T (p.Tyr190Phe)
NM_018706.7(DHTKD1):c.608A>G (p.His203Arg) rs2131357346
NM_018706.7(DHTKD1):c.613C>G (p.Leu205Val)
NM_018706.7(DHTKD1):c.624G>A (p.Met208Ile)
NM_018706.7(DHTKD1):c.635G>A (p.Ser212Asn)
NM_018706.7(DHTKD1):c.637G>A (p.Gly213Arg)
NM_018706.7(DHTKD1):c.649G>A (p.Val217Ile)
NM_018706.7(DHTKD1):c.649G>T (p.Val217Phe)
NM_018706.7(DHTKD1):c.691A>G (p.Thr231Ala)
NM_018706.7(DHTKD1):c.698T>A (p.Leu233His)
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)
NM_018706.7(DHTKD1):c.718-4A>G
NM_018706.7(DHTKD1):c.721A>G (p.Met241Val)
NM_018706.7(DHTKD1):c.728G>A (p.Arg243His)
NM_018706.7(DHTKD1):c.728G>T (p.Arg243Leu) rs781779430
NM_018706.7(DHTKD1):c.737G>A (p.Arg246Gln)
NM_018706.7(DHTKD1):c.737G>C (p.Arg246Pro)
NM_018706.7(DHTKD1):c.761A>G (p.Asn254Ser)
NM_018706.7(DHTKD1):c.773C>G (p.Thr258Ser)
NM_018706.7(DHTKD1):c.781G>A (p.Val261Ile)
NM_018706.7(DHTKD1):c.800C>A (p.Ser267Tyr) rs764869852
NM_018706.7(DHTKD1):c.817T>C (p.Phe273Leu)
NM_018706.7(DHTKD1):c.818T>C (p.Phe273Ser)
NM_018706.7(DHTKD1):c.823G>T (p.Ala275Ser)
NM_018706.7(DHTKD1):c.831T>G (p.His277Gln)
NM_018706.7(DHTKD1):c.841G>A (p.Val281Met)
NM_018706.7(DHTKD1):c.847A>T (p.Met283Leu)
NM_018706.7(DHTKD1):c.851T>C (p.Leu284Ser)
NM_018706.7(DHTKD1):c.857A>G (p.Asn286Ser)
NM_018706.7(DHTKD1):c.877G>A (p.Val293Ile)
NM_018706.7(DHTKD1):c.890C>T (p.Ala297Val) rs1832949989
NM_018706.7(DHTKD1):c.892G>A (p.Val298Met)
NM_018706.7(DHTKD1):c.905G>A (p.Arg302His)
NM_018706.7(DHTKD1):c.907G>A (p.Gly303Ser)
NM_018706.7(DHTKD1):c.908G>T (p.Gly303Val)
NM_018706.7(DHTKD1):c.915G>C (p.Gln305His)
NM_018706.7(DHTKD1):c.934G>A (p.Asp312Asn)
NM_018706.7(DHTKD1):c.941C>T (p.Ser314Phe)
NM_018706.7(DHTKD1):c.944C>T (p.Pro315Leu)
NM_018706.7(DHTKD1):c.94G>A (p.Gly32Ser)
NM_018706.7(DHTKD1):c.953C>T (p.Ser318Leu)
NM_018706.7(DHTKD1):c.962C>A (p.Pro321Gln)
NM_018706.7(DHTKD1):c.967G>A (p.Asp323Asn)
NM_018706.7(DHTKD1):c.970A>G (p.Arg324Gly)
NM_018706.7(DHTKD1):c.973G>A (p.Val325Ile)
NM_018706.7(DHTKD1):c.981C>G (p.Cys327Trp)
NM_018706.7(DHTKD1):c.987+4C>T
NM_018706.7(DHTKD1):c.987G>C (p.Gln329His)
NM_018706.7(DHTKD1):c.992A>G (p.His331Arg)

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