ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
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_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_000398.7(CYB5R3):c.464-2A>C rs794728013 0.00004
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter) rs148877937 0.00001
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp) rs201255024 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NC_000004.12:g.(99601399_99613000)del
NM_000061.3(BTK):c.271C>T (p.Gln91Ter)
NM_000061.3(BTK):c.588+2T>C
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000074.3(CD40LG):c.654C>A (p.Cys218Ter)
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000377.3(WAS):c.466_469del
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000975.5(RPL11):c.95_96del (p.Arg32fs)
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter) rs924297783
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671

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