ClinVar Miner

List of variants in gene ELANE studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_001972.2(ELANE):c.-353G>A rs2007647 0.19324
NM_001972.2(ELANE):c.-225C>A rs740021 0.08648
NC_000019.10:g.856426T>A rs187713106 0.04156
NM_001972.4(ELANE):c.390C>T (p.Asn130=) rs17223045 0.02903
NC_000019.10:g.852044C>T rs17216593 0.02837
NM_001972.4(ELANE):c.367-160C>T rs17223038 0.02580
NC_000019.10:g.852033T>C rs17222989 0.01904
NM_001972.4(ELANE):c.68-79G>A rs17216621 0.01621
NM_001972.4(ELANE):c.68-84T>C rs17223017 0.01346
NC_000019.10:g.856301G>A rs17216677 0.01130
NM_001972.4(ELANE):c.366+192G>T rs17223024 0.01062
NM_001972.3(ELANE):c.-41C>A rs17216614 0.00970
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_001972.4(ELANE):c.366+135C>T rs144635045 0.00676
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_001972.4(ELANE):c.597+66G>A rs147820254 0.00493
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NC_000019.10:g.856422A>T rs17223052 0.00483
NC_000019.10:g.852234C>T rs17216607 0.00482
NM_001972.4(ELANE):c.99C>T (p.Gly33=) rs17216628 0.00463
NM_001972.2(ELANE):c.-162C>T rs556325692 0.00245
NM_001972.4(ELANE):c.366+32C>T rs201956844 0.00121
NC_000019.10:g.852205C>T rs351106 0.00101
NM_001972.4(ELANE):c.366+125G>A rs576804561 0.00076
NM_001972.4(ELANE):c.778C>A (p.Pro260Thr) rs143579306 0.00055
NM_001972.4(ELANE):c.654C>T (p.Phe218=) rs148492780 0.00037
NM_001972.4(ELANE):c.*68C>G rs200271285 0.00035
NM_001972.4(ELANE):c.16C>A (p.Arg6=) rs182347433 0.00028
NM_001972.4(ELANE):c.68-15C>A rs367875841 0.00026
NM_001972.4(ELANE):c.431G>A (p.Arg144His) rs142441575 0.00020
NM_001972.4(ELANE):c.366+12C>A rs377068029 0.00017
NM_001972.4(ELANE):c.174C>T (p.Thr58=) rs199714513 0.00014
NM_001972.4(ELANE):c.428G>A (p.Arg143His) rs200993994 0.00014
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) rs112990855 0.00014
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) rs201421847 0.00011
NM_001972.4(ELANE):c.472C>G (p.Leu158Val) rs535990034 0.00011
NM_001972.4(ELANE):c.23C>T (p.Ala8Val) rs201961347 0.00010
NM_001972.4(ELANE):c.265C>T (p.Leu89Phe) rs1085307624 0.00010
NM_001972.4(ELANE):c.-11C>T rs748507982 0.00009
NM_001972.4(ELANE):c.104G>A (p.Arg35Gln) rs375350474 0.00009
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883 0.00007
NM_001972.4(ELANE):c.68-13G>A rs371409487 0.00007
NM_001972.4(ELANE):c.597+10C>G rs201460728 0.00006
NM_001972.4(ELANE):c.68-19G>A rs199933756 0.00005
NM_001972.4(ELANE):c.321C>T (p.Asn107=) rs200786414 0.00004
NM_001972.4(ELANE):c.333C>G (p.Pro111=) rs774932781 0.00004
NM_001972.4(ELANE):c.372C>T (p.Asn124=) rs200595736 0.00004
NM_001972.4(ELANE):c.456G>A (p.Leu152=) rs200599820 0.00004
NM_001972.4(ELANE):c.568G>A (p.Val190Met) rs367663236 0.00004
NM_001972.4(ELANE):c.201G>T (p.Ser67=) rs200254961 0.00003
NM_001972.4(ELANE):c.21C>T (p.Leu7=) rs200666143 0.00003
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln) rs755088297 0.00003
NM_001972.4(ELANE):c.502G>A (p.Val168Ile) rs201313263 0.00003
NM_001972.4(ELANE):c.627C>T (p.Asn209=) rs201664319 0.00003
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) rs137854445 0.00003
NC_000019.10:g.852196C>T rs1599289783 0.00002
NM_001972.4(ELANE):c.108G>A (p.Ala36=) rs886109432 0.00002
NM_001972.4(ELANE):c.224+31C>G rs201836597 0.00002
NM_001972.4(ELANE):c.347A>G (p.Asn116Ser) rs1196145112 0.00002
NM_001972.4(ELANE):c.407C>T (p.Ala136Val) rs145175658 0.00002
NM_001972.4(ELANE):c.556G>A (p.Val186Ile) rs140642538 0.00002
NM_001972.4(ELANE):c.578G>A (p.Arg193Gln) rs199659114 0.00002
NM_001972.4(ELANE):c.597+65C>T rs960168587 0.00002
NM_001972.4(ELANE):c.68-64C>T rs1212646432 0.00002
NM_001972.4(ELANE):c.687C>T (p.Pro229=) rs199670861 0.00002
NC_000019.10:g.852285G>C rs200601380 0.00001
NC_000019.10:g.852287G>A rs758179184 0.00001
NM_001972.4(ELANE):c.*40C>G rs1366725236 0.00001
NM_001972.4(ELANE):c.102G>A (p.Arg34=) rs1241470202 0.00001
NM_001972.4(ELANE):c.204C>T (p.Ala68=) rs1568304177 0.00001
NM_001972.4(ELANE):c.22G>A (p.Ala8Thr) rs759486889 0.00001
NM_001972.4(ELANE):c.235G>T (p.Ala79Ser) rs769123461 0.00001
NM_001972.4(ELANE):c.241C>T (p.Arg81Trp) rs1131691914 0.00001
NM_001972.4(ELANE):c.303G>A (p.Val101=) rs1330923988 0.00001
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg) rs568474579 0.00001
NM_001972.4(ELANE):c.352A>G (p.Ile118Val) rs1382122842 0.00001
NM_001972.4(ELANE):c.363C>G (p.Leu121=) rs765488502 0.00001
NM_001972.4(ELANE):c.364C>T (p.Gln122Ter) rs1303279241 0.00001
NM_001972.4(ELANE):c.418G>A (p.Ala140Thr) rs760393415 0.00001
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys) rs199558534 0.00001
NM_001972.4(ELANE):c.598-1G>A rs201117839 0.00001
NM_001972.4(ELANE):c.628G>A (p.Gly210Arg) rs140880838 0.00001
NM_001972.4(ELANE):c.63G>T (p.Leu21=) rs779360541 0.00001
NM_001972.4(ELANE):c.702G>A (p.Pro234=) rs202059602 0.00001
NC_000019.10:g.852238C>G rs370728101
NC_000019.10:g.852288C>T rs17216614
NC_000019.10:g.856425dup rs199720952
NC_000019.10:g.856435AAAAT[5] rs113311784
NM_001972.2(ELANE):c.600_601dupGG rs1057518191
NM_001972.4(ELANE):c.133G>T (p.Val45Leu) rs1599290793
NM_001972.4(ELANE):c.136_141del (p.Ser46_Leu47del) rs1555709349
NM_001972.4(ELANE):c.137C>A (p.Ser46Tyr) rs878855320
NM_001972.4(ELANE):c.137C>T (p.Ser46Phe) rs878855320
NM_001972.4(ELANE):c.140T>C (p.Leu47Pro) rs878855319
NM_001972.4(ELANE):c.157C>T (p.His53Tyr) rs1131691882
NM_001972.4(ELANE):c.158A>C (p.His53Pro)
NM_001972.4(ELANE):c.158A>T (p.His53Leu)
NM_001972.4(ELANE):c.164G>C (p.Cys55Ser) rs2035617210
NM_001972.4(ELANE):c.170C>T (p.Ala57Val) rs1057520110
NM_001972.4(ELANE):c.176T>G (p.Leu59Arg) rs1555709367
NM_001972.4(ELANE):c.194T>A (p.Val65Asp) rs2035617899
NM_001972.4(ELANE):c.1A>G (p.Met1Val) rs2145142832
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe) rs878855315
NM_001972.4(ELANE):c.224+99del rs34535016
NM_001972.4(ELANE):c.225-66G>T rs559254755
NM_001972.4(ELANE):c.228C>A (p.Asn76Lys) rs746799175
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) rs1064793108
NM_001972.4(ELANE):c.254G>A (p.Gly85Glu) rs2145145006
NM_001972.4(ELANE):c.254G>T (p.Gly85Val)
NM_001972.4(ELANE):c.258_269dup (p.His87_Ser90dup) rs1468631555
NM_001972.4(ELANE):c.269C>G (p.Ser90Trp)
NM_001972.4(ELANE):c.286C>T (p.Arg96Trp) rs777652186
NM_001972.4(ELANE):c.290A>C (p.Gln97Pro) rs1085307717
NM_001972.4(ELANE):c.293T>G (p.Val98Gly)
NM_001972.4(ELANE):c.2T>C (p.Met1Thr) rs2035606369
NM_001972.4(ELANE):c.305A>C (p.Gln102Pro) rs568474579
NM_001972.4(ELANE):c.308G>T (p.Arg103Leu) rs745455816
NM_001972.4(ELANE):c.336_359del (p.Asn113_Ile120del) rs879255272
NM_001972.4(ELANE):c.358A>T (p.Ile120Phe) rs1131691520
NM_001972.4(ELANE):c.366+10G>A rs764038526
NM_001972.4(ELANE):c.366+299G>T rs532906039
NM_001972.4(ELANE):c.366+66G>C rs2145145506
NM_001972.4(ELANE):c.367-8C>T rs200752339
NM_001972.4(ELANE):c.377C>G (p.Ser126Trp) rs137854450
NM_001972.4(ELANE):c.403G>A (p.Val135Met) rs774457980
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.437G>A (p.Gly146Asp) rs878855316
NM_001972.4(ELANE):c.452G>T (p.Cys151Phe) rs57246956
NM_001972.4(ELANE):c.457G>C (p.Ala153Pro)
NM_001972.4(ELANE):c.519C>A (p.Asn173Lys) rs200393776
NM_001972.4(ELANE):c.533C>A (p.Thr178Lys) rs747053501
NM_001972.4(ELANE):c.544del (p.Arg182fs) rs2145148879
NM_001972.4(ELANE):c.558C>A (p.Val186=) rs878855317
NM_001972.4(ELANE):c.573G>C (p.Arg191Ser) rs754277797
NM_001972.4(ELANE):c.577C>T (p.Arg193Trp) rs201723157
NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro)
NM_001972.4(ELANE):c.597+1G>A rs1555710005
NM_001972.4(ELANE):c.597+1G>C rs1555710005
NM_001972.4(ELANE):c.597+3A>T rs2145149093
NM_001972.4(ELANE):c.597+5G>A rs879253882
NM_001972.4(ELANE):c.597C>G (p.Phe199Leu)
NM_001972.4(ELANE):c.598-4A>G rs1599294548
NM_001972.4(ELANE):c.598-8C>T rs778083470
NM_001972.4(ELANE):c.605C>T (p.Ser202Phe) rs878855321
NM_001972.4(ELANE):c.606C>A (p.Ser202=) rs17216649
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_001972.4(ELANE):c.614C>G (p.Pro205Arg) rs1555710077
NM_001972.4(ELANE):c.630G>A (p.Gly210=) rs1599294640
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) rs137854451
NM_001972.4(ELANE):c.67+199A>G rs570466264
NM_001972.4(ELANE):c.67+1del rs886039350
NM_001972.4(ELANE):c.67+209_67+210del rs371057361
NM_001972.4(ELANE):c.67+210del rs371057361
NM_001972.4(ELANE):c.67+210dup rs371057361
NM_001972.4(ELANE):c.68-106G>A rs775299038
NM_001972.4(ELANE):c.68-107_68-85del rs200116667
NM_001972.4(ELANE):c.68-129G>A rs2035613508
NM_001972.4(ELANE):c.68-145GATCCCGTGGGTTCCCGGTGGGG[3] rs200116667
NM_001972.4(ELANE):c.68-61T>A rs2145143776
NM_001972.4(ELANE):c.688G>A (p.Asp230Asn)
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter) rs2035677025
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe) rs201224216
NM_001972.4(ELANE):c.77T>C (p.Leu26Pro) rs878855314
NM_001972.4(ELANE):c.90T>G (p.Ile30Met) rs2035615592
NM_001972.4(ELANE):c.98del (p.Gly33fs)

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