ClinVar Miner

List of variants studied for hematologic disorder by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_001754.5(RUNX1):c.352-1G>A rs587776809 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_000081.4(LYST):c.8802-2A>G
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2151+1G>A rs1555548428
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.826+5_826+9del rs797045570
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_001018115.3(FANCD2):c.1201del (p.Arg401fs) rs1553608812
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001386140.1(MTTP):c.708_709del (p.His236fs) rs1553926818
NM_001987.5(ETV6):c.614del (p.Leu205fs) rs1555144911
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp) rs1064797083
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_004364.5(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs) rs1555742213
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg) rs1553128241
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041
NM_014915.3(ANKRD26):c.-119C>G rs1554800065
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter) rs1553659758
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter) rs1553663498
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024747.6(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs) rs1554948192
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter) rs797046098
NM_181507.2(HPS5):c.107del (p.Lys36fs) rs1554948134
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_198253.3(TERT):c.1620C>G (p.Ile540Met) rs797046041
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041

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