ClinVar Miner

List of variants reported as likely pathogenic 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: 21
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HGVS dbSNP gnomAD frequency
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_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
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_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
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_000136.3(FANCC):c.34del (p.Tyr12fs)
NM_000518.5(HBB):c.-121C>T rs281864518
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_004629.2(FANCG):c.1771_1772del (p.Leu591fs)
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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