ClinVar Miner

List of variants reported as pathogenic for Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NC_000003.11:g.(?_127771396)_(128205874_?)del
NC_000003.12:g.(?_128480999)_(128912627_?)del
NC_000003.12:g.(?_128486793)_(128487041_?)del
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1018-1G>T rs869320668
NM_032638.5(GATA2):c.1018-2A>G rs1576745322
NM_032638.5(GATA2):c.1019C>A (p.Ser340Ter) rs745439347
NM_032638.5(GATA2):c.1024dup (p.Ala342fs) rs2068635607
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.1038dup (p.Thr347fs)
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1082_1083dup (p.Arg362fs)
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1126_1143+54del
NM_032638.5(GATA2):c.1148dup (p.Asn383fs)
NM_032638.5(GATA2):c.1180C>T (p.Gln394Ter)
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln) rs1420609104
NM_032638.5(GATA2):c.1196_1197insAG (p.Met400fs)
NM_032638.5(GATA2):c.1217del (p.Lys406fs)
NM_032638.5(GATA2):c.202del (p.Ala68fs)
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter) rs1254938356
NM_032638.5(GATA2):c.288_289del (p.Trp97fs)
NM_032638.5(GATA2):c.305_309del (p.Lys102fs)
NM_032638.5(GATA2):c.384dup (p.Ser129fs)
NM_032638.5(GATA2):c.423C>G (p.Tyr141Ter)
NM_032638.5(GATA2):c.437dup (p.Gly147fs) rs2107672654
NM_032638.5(GATA2):c.476_479dup (p.Pro161fs) rs2107672568
NM_032638.5(GATA2):c.522del (p.Thr176fs)
NM_032638.5(GATA2):c.599del (p.Gly200fs) rs768767517
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer) rs1553770949
NM_032638.5(GATA2):c.656_675del (p.Glu219fs)
NM_032638.5(GATA2):c.751_752dup (p.Tyr252fs) rs2107672019
NM_032638.5(GATA2):c.783_787dup (p.Gly263fs)
NM_032638.5(GATA2):c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC (p.Gly268fs)
NM_032638.5(GATA2):c.812dup (p.Pro274fs) rs2107671906
NM_032638.5(GATA2):c.818dup (p.Pro274fs) rs1559986946
NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer) rs1576748366
NM_032638.5(GATA2):c.890_903dup (p.Ala302fs) rs1559986109
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862
NM_032638.5(GATA2):c.988C>T (p.Arg330Ter) rs1576746847
NM_032638.5(GATA2):c.99C>A (p.Tyr33Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.