ClinVar Miner

List of variants reported as pathogenic for inherited sideroblastic anemia by OMIM

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000032.4(ALAS2):c.-258C>G rs140772352 0.00656
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) rs370011798 0.00008
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) rs121918330 0.00005
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371 0.00003
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) rs587777214 0.00002
NM_172002.5(HSCB):c.259dup (p.Thr87fs) rs773607816 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.383T>A (p.Met128Lys) rs891111781 0.00001
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser) rs765487627 0.00001
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309 0.00001
NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile) rs606231290 0.00001
NC_012920.1:m.8969G>A rs794726857
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) rs137852300
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) rs137852307
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) rs137852305
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) rs137852311
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) rs137852299
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) rs137852309
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) rs137852306
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) rs137852308
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) rs137852308
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) rs28935484
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) rs137852310
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) rs137852302
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly) rs587777215
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp) rs587777213
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) rs11539445
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) rs80356713
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del) rs869312659
NM_007194.2(CHEK2):c.-200C>T rs551244874
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
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) rs104894372
NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter) rs587776963
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter) rs606231291
NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser) rs606231289
NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile) rs606231287

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