ClinVar Miner

List of variants in gene ELANE reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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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
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.852234C>T rs17216607 0.00482
NM_001972.4(ELANE):c.99C>T (p.Gly33=) rs17216628 0.00463
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.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.366+12C>A rs377068029 0.00017
NM_001972.4(ELANE):c.174C>T (p.Thr58=) rs199714513 0.00014
NM_001972.4(ELANE):c.-11C>T rs748507982 0.00009
NM_001972.4(ELANE):c.68-19G>A rs199933756 0.00005
NM_001972.4(ELANE):c.372C>T (p.Asn124=) rs200595736 0.00004
NM_001972.4(ELANE):c.201G>T (p.Ser67=) rs200254961 0.00003
NC_000019.10:g.852196C>T rs1599289783 0.00002
NM_001972.4(ELANE):c.224+31C>G rs201836597 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.126C>T (p.Pro42=) rs587780933 0.00001
NM_001972.4(ELANE):c.204C>T (p.Ala68=) rs1568304177 0.00001
NM_001972.4(ELANE):c.303G>A (p.Val101=) rs1330923988 0.00001
NM_001972.4(ELANE):c.63G>T (p.Leu21=) rs779360541 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_001972.4(ELANE):c.224+99del rs34535016
NM_001972.4(ELANE):c.225-66G>T rs559254755
NM_001972.4(ELANE):c.366+10G>A rs764038526
NM_001972.4(ELANE):c.366+66G>C rs2145145506
NM_001972.4(ELANE):c.367-8C>T rs200752339
NM_001972.4(ELANE):c.519C>A (p.Asn173Lys) rs200393776
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_001972.4(ELANE):c.60G>A (p.Leu20=) rs755546229
NM_001972.4(ELANE):c.67+199A>G rs570466264
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.68-61T>A rs2145143776

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