ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive sideroblastic anemia

Included ClinVar conditions (5):
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_017875.4(SLC25A38):c.*431G>A rs73058292 0.00501
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) rs61995897 0.00151
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=) rs149992222 0.00132
NM_017875.4(SLC25A38):c.-161G>A rs528990278 0.00106
NM_017875.4(SLC25A38):c.-237G>A rs527536267 0.00088
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345 0.00066
NM_017875.4(SLC25A38):c.*305G>A rs774462116 0.00056
NM_017875.4(SLC25A38):c.-225G>A rs370977005 0.00050
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) rs144319567 0.00032
NM_017875.4(SLC25A38):c.*547C>T rs559766369 0.00030
NM_017875.4(SLC25A38):c.456+10A>G rs368989667 0.00030
NM_017875.4(SLC25A38):c.-69C>T rs886058470 0.00029
NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala) rs141545606 0.00029
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078 0.00013
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=) rs531290475 0.00012
NM_017875.4(SLC25A38):c.*404G>A rs886058473 0.00011
NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys) rs200791957 0.00011
NM_017875.4(SLC25A38):c.-227G>A rs886058468 0.00009
NM_017875.4(SLC25A38):c.626-5T>C rs767154505 0.00007
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer) rs772570880 0.00006
NM_017875.4(SLC25A38):c.*370C>T rs886058472 0.00006
NM_004134.7(HSPA9):c.967G>A (p.Val323Met) rs149041674 0.00005
NM_017875.4(SLC25A38):c.*548G>A rs531997173 0.00004
NM_004134.7(HSPA9):c.1178C>G (p.Pro393Arg) rs754137313 0.00003
NM_017875.4(SLC25A38):c.*395G>A rs576792249 0.00003
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753 0.00003
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=) rs763845960 0.00002
NM_017875.4(SLC25A38):c.*381G>C rs2041837298 0.00001
NM_017875.4(SLC25A38):c.-325G>C rs886058467 0.00001
NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val) rs759315257 0.00001
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) rs765578993 0.00001
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) rs764125735 0.00001
NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu) rs1301345110 0.00001
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_004134.7(HSPA9):c.1994C>A (p.Ser665Tyr)
NM_004134.7(HSPA9):c.599C>T (p.Ser200Leu)
NM_004134.7(HSPA9):c.88_96del (p.Trp30_Gly32del)
NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser) rs773847949
NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala) rs1891515868
NM_017875.4(SLC25A38):c.*718G>A rs2041842608
NM_017875.4(SLC25A38):c.-15C>A rs1373209338
NM_017875.4(SLC25A38):c.-219T>C rs886058469
NM_017875.4(SLC25A38):c.-39G>C rs375182491
NM_017875.4(SLC25A38):c.528C>A (p.Gly176=) rs2041775190
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) rs886058471
NM_017875.4(SLC25A38):c.584A>G (p.Tyr195Cys) rs2041776158
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn) rs146864395

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