ClinVar Miner

List of variants reported as likely benign for autosomal recessive sideroblastic anemia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017875.4(SLC25A38):c.-292G>A rs142441701 0.01159
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294 0.00385
NM_004134.7(HSPA9):c.21T>G (p.Ala7=) rs36043650 0.00380
NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly) rs34127778 0.00344
NM_017875.4(SLC25A38):c.*304C>T rs113251543 0.00262
NM_017875.4(SLC25A38):c.*490G>A rs150889211 0.00096
NM_017875.4(SLC25A38):c.*549G>A rs189387075 0.00023
NM_017875.4(SLC25A38):c.-273G>A rs184769974

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