ClinVar Miner

List of variants reported as pathogenic for anemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_000037.4(ANK1):c.1915del (p.Leu639fs)
NM_000059.4(BRCA2):c.4125_4138del (p.Glu1375fs)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340

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