List of variants reported as pathogenic for anemia by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter)	rs145661597	0.00016
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter)	rs368697251	0.00008
NM_030943.4(AMN):c.208-2A>G	rs386834170	0.00004
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter)	rs1573026975
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs)	rs1558162157
NM_000186.4(CFH):c.2535dup (p.Gln846fs)	rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)	rs121913057
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)	rs886039869
NM_000186.4(CFH):c.3134-2A>G	rs1300996807
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer)	rs1553273733
NM_001081.4(CUBN):c.5600del (p.Phe1867fs)	rs747417629
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)	rs386834177

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