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

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	rs11549407	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_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_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)	rs1304878514
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	rs397507553
NM_000975.5(RPL11):c.95_96del (p.Arg32fs)
NM_005142.3(CBLIF):c.183_186del (p.Met61fs)	rs765896727
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671

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