ClinVar Miner

List of variants studied for autosomal recessive sideroblastic anemia

Included ClinVar conditions (5):
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ClinVar version:
Total variants: 117
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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.-292G>A rs142441701 0.01159
NM_017875.4(SLC25A38):c.*431G>A rs73058292 0.00540
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.382A>G (p.Met128Val) rs146940902 0.00282
NM_017875.4(SLC25A38):c.*304C>T rs113251543 0.00262
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) rs61995897 0.00151
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=) rs149992222 0.00139
NM_017875.4(SLC25A38):c.-161G>A rs528990278 0.00120
NM_017875.4(SLC25A38):c.*490G>A rs150889211 0.00096
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345 0.00064
NM_017875.4(SLC25A38):c.*305G>A rs774462116 0.00056
NM_017875.4(SLC25A38):c.-237G>A rs527536267 0.00051
NM_017875.4(SLC25A38):c.456+10A>G rs368989667 0.00033
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.302T>C (p.Val101Ala) rs141545606 0.00030
NM_017875.4(SLC25A38):c.-69C>T rs886058470 0.00029
NM_017875.4(SLC25A38):c.-225G>A rs370977005 0.00025
NM_017875.4(SLC25A38):c.*549G>A rs189387075 0.00023
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078 0.00013
NM_017875.4(SLC25A38):c.*404G>A rs886058473 0.00011
NM_017875.4(SLC25A38):c.-227G>A rs886058468 0.00011
NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys) rs200791957 0.00011
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=) rs531290475 0.00011
NM_017875.4(SLC25A38):c.626-5T>C rs767154505 0.00007
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) rs121918330 0.00005
NM_017875.4(SLC25A38):c.*370C>T rs886058472 0.00004
NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter) rs147431446 0.00004
NM_017875.4(SLC25A38):c.*395G>A rs576792249 0.00003
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753 0.00002
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=) rs763845960 0.00002
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.314A>G (p.Asn105Ser) rs773847949 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_017875.4(SLC25A38):c.*381G>C rs2041837298 0.00001
NM_017875.4(SLC25A38):c.-325G>C rs886058467 0.00001
NM_017875.4(SLC25A38):c.277-2A>C rs1198314410 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.389G>A (p.Gly130Glu) rs762562272 0.00001
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) rs764125735 0.00001
NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val) rs755205622 0.00001
NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg) rs1218815001 0.00001
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
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_016417.3(GLRX5):c.322A>G (p.Thr108Ala) rs1891515868
NM_017875.4(SLC25A38):c.*212T>G rs72867427
NM_017875.4(SLC25A38):c.*548G>A rs531997173
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.-273G>A rs184769974
NM_017875.4(SLC25A38):c.-39G>C rs375182491
NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys) rs866266558
NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter) rs2125577893
NM_017875.4(SLC25A38):c.207_214del (p.Met70fs) rs2125578591
NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs) rs2125578633
NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter) rs2125578710
NM_017875.4(SLC25A38):c.275C>G (p.Pro92Arg)
NM_017875.4(SLC25A38):c.276+1G>A rs2125578753
NM_017875.4(SLC25A38):c.276+1G>T rs2125578753
NM_017875.4(SLC25A38):c.277-1G>A rs869312029
NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn) rs762067787
NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu) rs2125579714
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer) rs2125579746
NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs) rs1301033567
NM_017875.4(SLC25A38):c.362del (p.Pro121fs) rs2125579866
NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg) rs2125579946
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) rs1293528130
NM_017875.4(SLC25A38):c.401G>A (p.Arg134His) rs2041767822
NM_017875.4(SLC25A38):c.409dup (p.Ala137fs) rs2041767936
NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs) rs2125580030
NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn) rs2041768572
NM_017875.4(SLC25A38):c.457-1G>T rs1448237170
NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg) rs772425489
NM_017875.4(SLC25A38):c.475del (p.Glu159fs) rs2041773742
NM_017875.4(SLC25A38):c.480dup (p.Ile161fs) rs2125580393
NM_017875.4(SLC25A38):c.528C>A (p.Gly176=) rs2041775190
NM_017875.4(SLC25A38):c.559C>T (p.Arg187Ter)
NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln) rs121918331
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.562G>C (p.Asp188His) rs2125580560
NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg) rs2125580580
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) rs886058471
NM_017875.4(SLC25A38):c.584A>G (p.Tyr195Cys)
NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro) rs2125580600
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn) rs146864395
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395
NM_017875.4(SLC25A38):c.626-2A>T rs2125582750
NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs) rs781372292
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs) rs1575247302
NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs) rs2125582823
NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro) rs2125582841
NM_017875.4(SLC25A38):c.70-2A>C rs1233124208
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) rs121918332
NM_017875.4(SLC25A38):c.792+5G>C rs2125582986
NM_017875.4(SLC25A38):c.793-1G>C
NM_017875.4(SLC25A38):c.809dup (p.Phe271fs) rs2125584589
NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly) rs147431446
NM_017875.4(SLC25A38):c.858del (p.Ala287fs) rs2125584640
NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)
NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter) rs1156987118

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