ClinVar Miner

List of variants in gene DHTKD1 studied for Inborn genetic diseases

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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.1832A>G (p.Gln611Arg) rs147938299 0.00220
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00188
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) rs78189904 0.00073
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.1364G>A (p.Arg455Gln) rs142068634 0.00016
NM_018706.7(DHTKD1):c.307G>T (p.Ala103Ser) rs35442324 0.00011
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 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.1720G>A (p.Ala574Thr) rs200095700 0.00006
NM_018706.7(DHTKD1):c.1904A>G (p.Asn635Ser) rs765879482 0.00006
NM_018706.7(DHTKD1):c.2583G>A (p.Trp861Ter) rs919130135 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.451G>A (p.Glu151Lys) rs908926249 0.00005
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr) rs539692445 0.00004
NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln) rs773052090 0.00004
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.1604G>T (p.Gly535Val) rs769818273 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.2263C>T (p.Arg755Trp) rs553531625 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.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.2429G>A (p.Gly810Asp) rs781524340 0.00002
NM_018706.7(DHTKD1):c.2456A>G (p.Gln819Arg) rs749073861 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.931G>A (p.Gly311Ser) rs372367790 0.00002
NM_018706.7(DHTKD1):c.976A>G (p.Ile326Val) rs745602291 0.00002
NM_018706.5(DHTKD1):c.2143C>T rs200788729 0.00001
NM_018706.7(DHTKD1):c.1133G>A (p.Arg378Lys) rs762001099 0.00001
NM_018706.7(DHTKD1):c.1159+5G>A rs765325409 0.00001
NM_018706.7(DHTKD1):c.1454A>G (p.Tyr485Cys) rs1017447763 0.00001
NM_018706.7(DHTKD1):c.1585G>A (p.Asp529Asn) rs751439344 0.00001
NM_018706.7(DHTKD1):c.1638G>C (p.Gln546His) rs770478241 0.00001
NM_018706.7(DHTKD1):c.1641G>A (p.Met547Ile) rs561793789 0.00001
NM_018706.7(DHTKD1):c.1696G>A (p.Gly566Arg) rs761966951 0.00001
NM_018706.7(DHTKD1):c.1744T>G (p.Leu582Val) rs983914326 0.00001
NM_018706.7(DHTKD1):c.1812G>C (p.Arg604Ser) rs1485482389 0.00001
NM_018706.7(DHTKD1):c.1838C>T (p.Thr613Met) rs762902311 0.00001
NM_018706.7(DHTKD1):c.1850A>C (p.Tyr617Ser) rs773859468 0.00001
NM_018706.7(DHTKD1):c.1889T>G (p.Phe630Cys) rs1259560868 0.00001
NM_018706.7(DHTKD1):c.1928T>C (p.Val643Ala) rs750414743 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.2168C>T (p.Ala723Val) rs746396418 0.00001
NM_018706.7(DHTKD1):c.2378G>A (p.Gly793Asp) rs762495948 0.00001
NM_018706.7(DHTKD1):c.2402+3A>G rs754298961 0.00001
NM_018706.7(DHTKD1):c.2441A>G (p.Tyr814Cys) rs756286549 0.00001
NM_018706.7(DHTKD1):c.252G>C (p.Glu84Asp) rs930925223 0.00001
NM_018706.7(DHTKD1):c.2618C>T (p.Ser873Leu) rs1474587641 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
NM_018706.7(DHTKD1):c.305C>T (p.Thr102Met) rs769632958 0.00001
NM_018706.7(DHTKD1):c.337G>C (p.Ala113Pro) rs200967740 0.00001
NM_018706.7(DHTKD1):c.403T>G (p.Ser135Ala) rs755902715 0.00001
NM_018706.7(DHTKD1):c.432C>A (p.Asp144Glu) rs555471579 0.00001
NM_018706.7(DHTKD1):c.500C>T (p.Ser167Leu) rs767553524 0.00001
NM_018706.7(DHTKD1):c.577G>A (p.Glu193Lys) rs1052367278 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.965G>C (p.Gly322Ala) rs200814440 0.00001
NM_018706.7(DHTKD1):c.970A>G (p.Arg324Gly) rs549007510 0.00001
NM_018706.7(DHTKD1):c.1046C>T (p.Ser349Phe)
NM_018706.7(DHTKD1):c.1051C>T (p.Leu351Phe)
NM_018706.7(DHTKD1):c.1067T>C (p.Ile356Thr) rs1250819676
NM_018706.7(DHTKD1):c.1114A>G (p.Thr372Ala) rs749597709
NM_018706.7(DHTKD1):c.1154A>G (p.Asp385Gly)
NM_018706.7(DHTKD1):c.1195G>A (p.Gly399Arg)
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.1267G>T (p.Val423Leu)
NM_018706.7(DHTKD1):c.1340T>C (p.Ile447Thr) rs1588610706
NM_018706.7(DHTKD1):c.1342A>G (p.Met448Val)
NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg) rs201559023
NM_018706.7(DHTKD1):c.1406G>A (p.Gly469Asp)
NM_018706.7(DHTKD1):c.1464G>C (p.Leu488Phe)
NM_018706.7(DHTKD1):c.1671+4G>A rs2491492267
NM_018706.7(DHTKD1):c.1703A>T (p.Lys568Met) rs1564394752
NM_018706.7(DHTKD1):c.170C>T (p.Ala57Val)
NM_018706.7(DHTKD1):c.2040C>G (p.Ile680Met) rs2491503986
NM_018706.7(DHTKD1):c.2090T>G (p.Leu697Arg)
NM_018706.7(DHTKD1):c.2269T>G (p.Phe757Val)
NM_018706.7(DHTKD1):c.2319G>C (p.Pro773=) rs145738102
NM_018706.7(DHTKD1):c.2436T>G (p.His812Gln)
NM_018706.7(DHTKD1):c.2501G>A (p.Arg834Gln)
NM_018706.7(DHTKD1):c.2576A>G (p.His859Arg)
NM_018706.7(DHTKD1):c.2621T>G (p.Phe874Cys) rs2491527609
NM_018706.7(DHTKD1):c.2658+1G>T rs1564400797
NM_018706.7(DHTKD1):c.2659-3_2659-2del rs761529786
NM_018706.7(DHTKD1):c.2662C>A (p.Arg888Ser) rs143212640
NM_018706.7(DHTKD1):c.2663G>A (p.Arg888His) rs757827550
NM_018706.7(DHTKD1):c.2675G>T (p.Arg892Leu) rs574614585
NM_018706.7(DHTKD1):c.281A>C (p.Gln94Pro)
NM_018706.7(DHTKD1):c.304A>G (p.Thr102Ala)
NM_018706.7(DHTKD1):c.368A>G (p.Asn123Ser)
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.523G>A (p.Glu175Lys) rs1333426380
NM_018706.7(DHTKD1):c.55C>G (p.Leu19Val)
NM_018706.7(DHTKD1):c.628G>A (p.Ala210Thr)
NM_018706.7(DHTKD1):c.656T>C (p.Ile219Thr)
NM_018706.7(DHTKD1):c.700_701delinsGG (p.Leu234Gly) rs2131357438
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.770C>G (p.Ala257Gly)
NM_018706.7(DHTKD1):c.831T>G (p.His277Gln) rs779049645
NM_018706.7(DHTKD1):c.836T>A (p.Leu279His) rs2491476991
NM_018706.7(DHTKD1):c.859C>A (p.Pro287Thr) rs1832949185
NM_018706.7(DHTKD1):c.890C>T (p.Ala297Val) rs1832949989
NM_018706.7(DHTKD1):c.940T>C (p.Ser314Pro) rs2491477291
NM_018706.7(DHTKD1):c.998A>G (p.Asp333Gly) rs2491481552

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