ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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