ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) rs905672088 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_022725.4(FANCF):c.690del (p.Gly231fs) rs747622521 0.00001
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
NM_000132.4(F8):c.5453dup (p.Ala1819fs)
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000135.4(FANCA):c.1952del (p.Gly651fs)
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) rs1450151864
NM_000136.3(FANCC):c.34del (p.Tyr12fs)
NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter)
NM_000419.5(ITGA2B):c.189-1G>C
NM_000419.5(ITGA2B):c.591C>G (p.Tyr197Ter)
NM_000517.6(HBA2):c.2T>G (p.Met1Arg)
NM_000518.5(HBB):c.-121C>T rs281864518
NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)
NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)
NM_000552.5(VWF):c.2968-1G>A
NM_000552.5(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000558.5(HBA1):c.60del (p.His21fs)
NM_000558.5(HBA1):c.99G>A (p.Met33Ile)
NM_001001548.3(CD36):c.380C>G (p.Ser127Ter) rs201765331
NM_001018115.3(FANCD2):c.1278+1G>T
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_003998.4(NFKB1):c.1753-1G>C
NM_004629.2(FANCG):c.1771_1772del (p.Leu591fs)
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_032043.3(BRIP1):c.2258-2A>G
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_139027.6(ADAMTS13):c.415-1G>A rs1554785114
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114

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