ClinVar Miner

List of variants studied for anemia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
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_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NC_000011.10:g.5227172G>A rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_022725.4(FANCF):c.690del (p.Gly231fs) rs747622521 0.00001
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_000135.4(FANCA):c.3348+1G>T
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.34del (p.Tyr12fs)
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys) rs41464951
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.-121C>T rs281864518
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.93-22_95del rs193922563
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_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_004629.2(FANCG):c.1771_1772del (p.Leu591fs)
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_032043.3(BRIP1):c.2258-2A>G
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620

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