ClinVar Miner

List of variants studied for hematologic disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_000211.5(ITGB2):c.994-47G>A rs2838725 0.24547
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_000211.5(ITGB2):c.2248-127G>C rs235375 0.22047
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000211.5(ITGB2):c.500-11G>T rs55865320 0.16920
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_000211.5(ITGB2):c.58+12G>A rs2280965 0.09186
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660 0.00038
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_000211.5(ITGB2):c.381C>T (p.Ile127=) rs483352812 0.00007
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309 0.00007
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250 0.00004
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340 0.00003
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly) rs769053835 0.00002
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000211.4(ITGB2):c.[576dupC];[706G>A]
NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter) rs483352816
NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) rs483352817
NM_000211.5(ITGB2):c.1877+2T>C rs483352818
NM_000211.5(ITGB2):c.1878-45dup rs35293792
NM_000211.5(ITGB2):c.1907del (p.Lys636fs) rs483352819
NM_000211.5(ITGB2):c.2247+57C>T rs33973568
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.576dup (p.Asn193fs) rs483352813
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.843del (p.Asn282fs) rs483352815
NM_000211.5(ITGB2):c.897+1G>T rs201752283
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.315+1G>T rs33945777
NM_000558.5(HBA1):c.2T>G (p.Met1Arg) rs1316527998
NM_000611.6(CD59):c.190T>G (p.Cys64Gly) rs1554939509
NM_000611.6(CD59):c.85T>G (p.Tyr29Asp) rs1564972905
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser) rs1592344306
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_001001548.3(CD36):c.784dup (p.Gln262fs) rs766920034
NM_001006658.3(CR2):c.462T>A (p.Cys154Ter) rs1572952530
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu) rs1572360947
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
NM_001172303.3(MASTL):c.867T>A (p.Asn289Lys) rs535159862
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del) rs1555812473
NM_001346754.2(PIGW):c.608T>G (p.Leu203Trp) rs12952744
NM_001375808.2(LPIN2):c.469C>T (p.Arg157Ter) rs916009547
NM_001770.6(CD19):c.1042T>C (p.Tyr348His) rs1596717340
NM_001783.4(CD79A):c.419C>T (p.Thr140Ile) rs148797987
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017
NM_002872.5(RAC2):c.108-8C>G rs1601672720
NM_004629.2(FANCG):c.84+53G>T rs1563987651
NM_006846.4(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_015338.6(ASXL1):c.4109AGA[1] (p.Lys1371del) rs752856195
NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del) rs1203207717
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_016734.3(PAX5):c.435G>C (p.Gln145His) rs758368747
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr) rs1554953926
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) rs1563509743
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs) rs1588810676
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs) rs1554826615
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs) rs1554922054
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe) rs1588761583

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.