ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter) rs104893626
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399

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