ClinVar Miner

List of variants in gene SLC25A38 reported as benign for autosomal recessive sideroblastic anemia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_017875.4(SLC25A38):c.456+36G>A rs1995236 0.88218
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770 0.39870
NM_017875.4(SLC25A38):c.626-36G>C rs870843 0.27843
NM_017875.4(SLC25A38):c.*310A>T rs12991 0.26507
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_017875.4(SLC25A38):c.*472G>T rs141567816 0.01690
NM_017875.4(SLC25A38):c.-303A>C rs114422738 0.01335
NM_017875.4(SLC25A38):c.-209A>G rs143903497 0.01332
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902 0.00282
NM_017875.4(SLC25A38):c.*212T>G rs72867427

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