ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by 3billion

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) rs144718007 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881 0.00003
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) rs281875211 0.00003
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_006846.4(SPINK5):c.1302+4A>T rs201269335 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) rs137852609 0.00001
NM_000212.3(ITGB3):c.777+1G>A rs745766760 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs) rs769441127 0.00001
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000074.3(CD40LG):c.158_161del
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs) rs2113123881
NM_000130.5(F5):c.2521C>T (p.Gln841Ter)
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys) rs1384374956
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.4(F8):c.3300dup (p.Glu1101fs)
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)
NM_000132.4(F8):c.6115+2T>C
NM_000132.4(F8):c.755_756del (p.Thr252fs)
NM_000133.4(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.4(F9):c.128G>A (p.Arg43Gln) rs1275708479
NM_000133.4(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.2852+1del
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000212.3(ITGB3):c.615-1G>A
NM_000298.6(PKLR):c.1015del (p.Asp339fs) rs1193689718
NM_000298.6(PKLR):c.808C>T (p.Arg270Ter)
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000355.4(TCN2):c.623_624del (p.Arg208fs)
NM_000373.4(UMPS):c.1213C>T (p.Arg405Ter)
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.21_22del (p.Leu8fs) rs2143507418
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys) rs41464951
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000518.5(HBB):c.138del (p.Phe46fs) rs35133315
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.5(VWF):c.6599-5_6610del
NM_000552.5(VWF):c.7563G>A (p.Trp2521Ter)
NM_000558.5(HBA1):c.262C>T (p.His88Tyr) rs28928876
NM_000671.4(ADH5):c.966del (p.Gly321_Trp322insTer) rs748162259
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000975.5(RPL11):c.124C>T (p.Gln42Ter)
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.787_808del (p.Val263fs) rs754365623
NM_001002010.5(NT5C3A):c.718G>T (p.Glu240Ter) rs925502732
NM_001018113.3(FANCB):c.195dup (p.Thr66fs) rs1602006627
NM_001022.4(RPS19):c.296_297del (p.Val99fs) rs1555841356
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001364905.1(LRBA):c.534del (p.Asp179fs) rs2149508258
NM_001364905.1(LRBA):c.8107_8110del (p.Ser2703fs)
NM_001386140.1(MTTP):c.640del (p.Ala214fs) rs2110218614
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter) rs762088983
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_018368.4(LMBRD1):c.1094_1095del (p.Leu365fs) rs2149844541
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp) rs104894324
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter) rs895175332
NM_032383.5(HPS3):c.1561del (p.Leu521fs) rs2108158577
NM_080911.3(UNG):c.649dup (p.Thr217fs) rs1302020618
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)
NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)
NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_139276.3(STAT3):c.551-1G>C rs1598423756
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter) rs2133295344
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_172351.3(CD46):c.350_351dup (p.Glu118fs) rs2102541856
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709

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.