ClinVar Miner

List of variants in gene ELANE reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001972.4(ELANE):c.390C>T (p.Asn130=) rs17223045 0.02903
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.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_001972.4(ELANE):c.99C>T (p.Gly33=) rs17216628 0.00463
NM_001972.4(ELANE):c.366+12C>A rs377068029 0.00017
NM_001972.4(ELANE):c.23C>T (p.Ala8Val) rs201961347 0.00010
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.373G>A (p.Gly125Arg) rs377698556 0.00005
NM_001972.4(ELANE):c.108G>A (p.Ala36=) rs886109432 0.00002
NM_001972.4(ELANE):c.235G>T (p.Ala79Ser) rs769123461 0.00001
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg) rs568474579 0.00001
NM_001972.4(ELANE):c.293T>G (p.Val98Gly)
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) 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.533C>A (p.Thr178Lys) rs747053501
NM_001972.4(ELANE):c.558C>A (p.Val186=) rs878855317
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.641G>T (p.Gly214Val) rs1555710089
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu) rs760263661

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