ClinVar Miner

List of variants reported as pathogenic for autosomal dominant severe congenital neutropenia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) rs137854445 0.00003
NM_001972.4(ELANE):c.214G>A (p.Val72Met) rs387906553 0.00001
NM_001972.2(ELANE):c.[292G>T;301G>T]
NM_001972.4(ELANE):c.129C>G (p.Phe43Leu)
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.164G>A (p.Cys55Tyr)
NM_001972.4(ELANE):c.182C>T (p.Ala61Val) rs137854447
NM_001972.4(ELANE):c.1A>G (p.Met1Val) rs2145142832
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) rs28931611
NM_001972.4(ELANE):c.242G>C (p.Arg81Pro) rs762470485
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) rs1064793108
NM_001972.4(ELANE):c.253G>A (p.Gly85Arg) rs1405536870
NM_001972.4(ELANE):c.289_300dup (p.Ala100_Val101insGlnValPheAla) rs2145145135
NM_001972.4(ELANE):c.301G>A (p.Val101Met) rs137854449
NM_001972.4(ELANE):c.308G>C (p.Arg103Pro) rs745455816
NM_001972.4(ELANE):c.367-8C>A rs200752339
NM_001972.4(ELANE):c.377C>G (p.Ser126Trp) rs137854450
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.416C>G (p.Pro139Arg)
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) rs57246956
NM_001972.4(ELANE):c.452G>C (p.Cys151Ser) rs57246956
NM_001972.4(ELANE):c.461T>G (p.Met154Arg) rs1429051935
NM_001972.4(ELANE):c.538del (p.Leu180fs)
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) rs797045009
NM_001972.4(ELANE):c.574_583del (p.Gly192fs) rs2145148969
NM_001972.4(ELANE):c.597+1G>A rs1555710005
NM_001972.4(ELANE):c.597+1G>C rs1555710005
NM_001972.4(ELANE):c.597+5G>A rs879253882
NM_001972.4(ELANE):c.597+5G>T rs879253882
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) rs201139487
NM_001972.4(ELANE):c.639del (p.His213fs)
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) rs137854451
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter) rs1599294750
NM_001972.4(ELANE):c.687del (p.Asp230fs) rs2145149748
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter) rs2035677025
NM_001972.4(ELANE):c.723G>A (p.Trp241Ter) rs2145149815
NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser) rs28936381
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) rs587779413

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