ClinVar Miner

List of variants in gene EHHADH studied for not provided

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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_001966.4(EHHADH):c.75-333A>G rs1468949 0.93396
NM_001966.4(EHHADH):c.75-253A>C rs3764919 0.66829
NM_001966.4(EHHADH):c.568+216T>A rs55702263 0.65660
NM_001966.4(EHHADH):c.2053C>A (p.Gln685Lys) rs11919970 0.17157
NM_001966.4(EHHADH):c.463+340C>T rs2377373 0.15557
NM_001966.4(EHHADH):c.352-91T>C rs719393 0.13493
NM_001966.4(EHHADH):c.463+225G>A rs62288664 0.13482
NM_001966.4(EHHADH):c.910+257del rs370874023 0.09306
NM_001966.4(EHHADH):c.910+257C>T rs77589543 0.07844
NM_001966.4(EHHADH):c.75-119T>G rs6807936 0.06785
NM_001966.4(EHHADH):c.178+132G>A rs16859877 0.06773
NM_001966.4(EHHADH):c.74+229C>T rs62288690 0.05552
NM_001966.4(EHHADH):c.463+8T>C rs41268595 0.05547
NM_001966.4(EHHADH):c.820G>A (p.Ala274Thr) rs2302819 0.05241
NM_001966.4(EHHADH):c.352-295A>G rs79178277 0.05126
NM_001966.4(EHHADH):c.75-279G>A rs11707079 0.04741
NM_001966.4(EHHADH):c.2144T>C (p.Leu715Ser) rs11927618 0.02389
NM_001966.4(EHHADH):c.847A>G (p.Thr283Ala) rs115754857 0.01135
NM_001966.4(EHHADH):c.910+7C>A rs17283799 0.00874
NM_001966.4(EHHADH):c.2108C>T (p.Ser703Phe) rs55752621 0.00852
NM_001966.4(EHHADH):c.608T>G (p.Ile203Ser) rs149115164 0.00660
NM_001966.4(EHHADH):c.763C>G (p.Leu255Val) rs114864468 0.00510
NM_001966.4(EHHADH):c.1908A>G (p.Gly636=) rs114439807 0.00504
NM_001966.4(EHHADH):c.2050A>G (p.Arg684Gly) rs114173562 0.00504
NM_001966.4(EHHADH):c.2066T>C (p.Ile689Thr) rs114925063 0.00503
NM_001966.4(EHHADH):c.861A>G (p.Ala287=) rs140339876 0.00476
NM_001966.4(EHHADH):c.2117A>T (p.Asn706Ile) rs56056620 0.00431
NM_001966.4(EHHADH):c.121A>G (p.Ile41Val) rs78790730 0.00404
NM_001966.4(EHHADH):c.1448G>A (p.Arg483Gln) rs79582353 0.00393
NM_001966.4(EHHADH):c.1003A>G (p.Thr335Ala) rs58044717 0.00367
NM_001966.4(EHHADH):c.1805G>A (p.Arg602Gln) rs35200935 0.00329
NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly) rs140735525 0.00159
NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu) rs144464757 0.00095
NM_001966.4(EHHADH):c.450C>T (p.Asp150=) rs116162834 0.00091
NM_001966.4(EHHADH):c.1804C>T (p.Arg602Trp) rs148208284 0.00083
NM_001966.4(EHHADH):c.2094A>G (p.Leu698=) rs370130327 0.00083
NM_001966.4(EHHADH):c.1814A>G (p.Lys605Arg) rs140844253 0.00069
NM_001966.4(EHHADH):c.881C>T (p.Ala294Val) rs140514906 0.00066
NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr) rs146431168 0.00059
NM_001966.4(EHHADH):c.1068C>T (p.His356=) rs142166617 0.00058
NM_001966.4(EHHADH):c.78G>A (p.Thr26=) rs150381945 0.00049
NM_001966.4(EHHADH):c.179-5C>T rs553081493 0.00048
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val) rs140461295 0.00036
NM_001966.4(EHHADH):c.6C>G (p.Ala2=) rs141515588 0.00029
NM_001966.4(EHHADH):c.1013A>G (p.Lys338Arg) rs141210101 0.00026
NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met) rs140527463 0.00020
NM_001966.4(EHHADH):c.77C>T (p.Thr26Met) rs138013408 0.00019
NM_001966.4(EHHADH):c.1414G>A (p.Val472Ile) rs138187022 0.00018
NM_001966.4(EHHADH):c.22C>T (p.His8Tyr) rs149510968 0.00014
NM_001966.4(EHHADH):c.345C>T (p.His115=) rs183258582 0.00014
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=) rs141355337 0.00013
NM_001966.4(EHHADH):c.1563G>A (p.Val521=) rs138858065 0.00011
NM_001966.4(EHHADH):c.190C>T (p.Arg64Cys) rs776874092 0.00011
NM_001966.4(EHHADH):c.621C>G (p.Pro207=) rs139788883 0.00011
NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser) rs150744159 0.00010
NM_001966.4(EHHADH):c.1983C>T (p.Gly661=) rs371169804 0.00010
NM_001966.4(EHHADH):c.2043A>C (p.Lys681Asn) rs753933808 0.00010
NM_001966.4(EHHADH):c.889G>T (p.Val297Phe) rs576283902 0.00009
NM_001966.4(EHHADH):c.908T>C (p.Val303Ala) rs143364521 0.00009
NM_001966.4(EHHADH):c.713A>T (p.Gln238Leu) rs200753408 0.00007
NM_001966.4(EHHADH):c.1447C>T (p.Arg483Ter) rs367840568 0.00006
NM_001966.4(EHHADH):c.178+4A>G rs142215929 0.00006
NM_001966.4(EHHADH):c.298G>A (p.Gly100Arg) rs768718791 0.00006
NM_001966.4(EHHADH):c.46C>T (p.Leu16Phe) rs375593577 0.00006
NM_001966.4(EHHADH):c.630C>T (p.Asp210=) rs1019192267 0.00006
NM_001966.4(EHHADH):c.783A>G (p.Gln261=) rs138063371 0.00006
NM_001966.4(EHHADH):c.607A>G (p.Ile203Val) rs199689303 0.00005
NM_001966.4(EHHADH):c.855C>T (p.Ser285=) rs752275123 0.00005
NM_001966.4(EHHADH):c.1084A>G (p.Lys362Glu) rs1237997726 0.00004
NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer) rs771955031 0.00004
NM_001966.4(EHHADH):c.1321A>C (p.Lys441Gln) rs747707741 0.00004
NM_001966.4(EHHADH):c.144T>C (p.Ile48=) rs370127523 0.00004
NM_001966.4(EHHADH):c.1578G>A (p.Gly526=) rs150207107 0.00004
NM_001966.4(EHHADH):c.1674C>T (p.Tyr558=) rs759750020 0.00004
NM_001966.4(EHHADH):c.427A>C (p.Thr143Pro) rs371383786 0.00004
NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala) rs185950214 0.00004
NM_001966.4(EHHADH):c.*8T>C rs377084851 0.00003
NM_001966.4(EHHADH):c.1478A>G (p.Tyr493Cys) rs1219127385 0.00003
NM_001966.4(EHHADH):c.1897C>T (p.Arg633Cys) rs201374672 0.00003
NM_001966.4(EHHADH):c.30C>T (p.Ala10=) rs764087181 0.00003
NM_001966.4(EHHADH):c.353C>T (p.Ala118Val) rs1560017500 0.00003
NM_001966.4(EHHADH):c.49C>T (p.Arg17Ter) rs769444169 0.00003
NM_001966.4(EHHADH):c.984G>T (p.Ser328=) rs372621913 0.00003
NM_001966.4(EHHADH):c.882G>A (p.Ala294=) rs748132233 0.00002
NM_001966.4(EHHADH):c.1210G>A (p.Ala404Thr) rs1560004418 0.00001
NM_001966.4(EHHADH):c.1413C>T (p.Val471=) rs537479214 0.00001
NM_001966.4(EHHADH):c.1693C>T (p.Leu565Phe) rs771154497 0.00001
NM_001966.4(EHHADH):c.1861G>T (p.Glu621Ter) rs1560003719 0.00001
NM_001966.4(EHHADH):c.2078A>G (p.Glu693Gly) rs747498106 0.00001
NM_001966.4(EHHADH):c.265C>G (p.Pro89Ala) rs1289048625 0.00001
NM_001966.4(EHHADH):c.28G>A (p.Ala10Thr) rs753915732 0.00001
NM_001966.4(EHHADH):c.421A>G (p.Arg141Gly) rs942597214 0.00001
NM_001966.4(EHHADH):c.596G>T (p.Cys199Phe) rs1553776950 0.00001
NM_001966.4(EHHADH):c.673C>G (p.Pro225Ala) rs762656795 0.00001
NM_001966.4(EHHADH):c.726G>A (p.Gln242=) rs779053739 0.00001
NM_001966.4(EHHADH):c.785C>A (p.Ser262Ter) rs759769910 0.00001
NM_001966.4(EHHADH):c.1074G>T (p.Trp358Cys) rs1553775920
NM_001966.4(EHHADH):c.1087C>T (p.Pro363Ser)
NM_001966.4(EHHADH):c.1305G>A (p.Ser435=) rs879731883
NM_001966.4(EHHADH):c.1414G>C (p.Val472Leu) rs138187022
NM_001966.4(EHHADH):c.143T>C (p.Ile48Thr) rs1232909122
NM_001966.4(EHHADH):c.145_148delinsTTT (p.Val49fs) rs1560023344
NM_001966.4(EHHADH):c.1505C>G (p.Pro502Arg) rs551915910
NM_001966.4(EHHADH):c.1543A>T (p.Lys515Ter) rs1553775854
NM_001966.4(EHHADH):c.1547T>A (p.Met516Lys) rs1560004064
NM_001966.4(EHHADH):c.1652G>A (p.Arg551Gln)
NM_001966.4(EHHADH):c.1773del (p.Lys591fs) rs1255563715
NM_001966.4(EHHADH):c.1786C>G (p.Leu596Val)
NM_001966.4(EHHADH):c.1793A>G (p.Lys598Arg) rs1042437
NM_001966.4(EHHADH):c.199A>C (p.Ser67Arg) rs1560019194
NM_001966.4(EHHADH):c.199A>G (p.Ser67Gly) rs1560019194
NM_001966.4(EHHADH):c.2023G>A (p.Val675Ile) rs1553775800
NM_001966.4(EHHADH):c.2069_2071del (p.Pro690del) rs781751204
NM_001966.4(EHHADH):c.2075T>A (p.Leu692Gln) rs913067903
NM_001966.4(EHHADH):c.411G>A (p.Gln137=) rs148984368
NM_001966.4(EHHADH):c.511A>G (p.Lys171Glu) rs1560013407
NM_001966.4(EHHADH):c.547A>G (p.Arg183Gly) rs1195296762
NM_001966.4(EHHADH):c.561_562del (p.Arg187fs) rs1560013367
NM_001966.4(EHHADH):c.568+117T>G rs35531967
NM_001966.4(EHHADH):c.586del (p.Arg196fs) rs1375541639
NM_001966.4(EHHADH):c.60G>A (p.Pro20=) rs780747092
NM_001966.4(EHHADH):c.622A>G (p.Asn208Asp) rs1560009142
NM_001966.4(EHHADH):c.690G>A (p.Gln230=) rs1577357249
NM_001966.4(EHHADH):c.726G>T (p.Gln242His) rs779053739
NM_001966.4(EHHADH):c.74+167CTTTT[3] rs1553780972
NM_001966.4(EHHADH):c.74+173_74+174dup rs60892892
NM_001966.4(EHHADH):c.78_80del (p.Thr27del) rs781558131
NM_001966.4(EHHADH):c.793G>C (p.Ala265Pro) rs1560008921
NM_001966.4(EHHADH):c.828_830delinsCAT (p.Arg276_Lys277delinsSerIle) rs1560008854
NM_001966.4(EHHADH):c.856G>A (p.Gly286Arg)

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