ClinVar Miner

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

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
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_080669.6(SLC46A1):c.329G>A (p.Ser110Asn) rs201076728 0.00020
NM_000988.5(RPL27):c.403C>T (p.Arg135Trp) rs146328911 0.00016
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_001355436.2(SPTB):c.3764+8C>T rs200257205 0.00005
NM_000398.7(CYB5R3):c.464-2A>C rs794728013 0.00004
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) rs762052950 0.00004
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys) rs397507838 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_000096.4(CP):c.1036+15C>T
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000975.5(RPL11):c.95_96del (p.Arg32fs)
NM_001142864.4(PIEZO1):c.5272G>C (p.Val1758Leu) rs753642385
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_005142.3(CBLIF):c.370+1G>C
NM_005236.3(ERCC4):c.2164A>G (p.Met722Val) rs754771000
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.756_758del (p.Gln252_Phe253delinsHis)
NM_007294.4(BRCA1):c.3769GAG[1] (p.Glu1258del) rs1057517536
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) rs786203488
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu) rs373107728

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