List of variants reported as pathogenic for autosomal recessive sideroblastic anemia by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter)	rs121918330	0.00005
NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer)	rs763817505	0.00001
NM_016417.3(GLRX5):c.294A>G (p.Gln98=)	rs121908584	0.00001
NM_016417.3(GLRX5):c.383T>A (p.Met128Lys)	rs891111781	0.00001
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser)	rs765487627	0.00001
NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del)	rs869312659
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr)	rs1891344853
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln)	rs869312752
NM_017875.4(SLC25A38):c.277-1G>A	rs869312029
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs)	rs869320719
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)	rs121918331
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter)	rs121918332

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