ClinVar Miner

List of variants reported as likely pathogenic for inherited sideroblastic anemia

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) rs372098364 0.00007
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val) rs146717589 0.00006
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu) rs745595833 0.00004
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) rs199931785 0.00004
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter) rs370699359 0.00004
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371 0.00003
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) rs779651314 0.00001
NM_182916.3(TRNT1):c.1010del (p.Thr337fs) rs772805677 0.00001
NC_000003.11:g.(?_3179743)_(3189406_?)del
NM_000032.5(ALAS2):c.-15-2188A>G
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His) rs1935671225
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg) rs2146715075
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) rs1057518042
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs) rs1575247302
NM_017875.4(SLC25A38):c.793-1G>C
NM_025215.6(PUS1):c.107_122del (p.Pro36fs)
NM_025215.6(PUS1):c.1237-2A>G
NM_025215.6(PUS1):c.130dup (p.Gln44fs)
NM_025215.6(PUS1):c.178del (p.Glu60fs)
NM_025215.6(PUS1):c.418C>T (p.Gln140Ter)
NM_025215.6(PUS1):c.442-1G>T
NM_025215.6(PUS1):c.454dup (p.Ala152fs) rs1555268564
NM_025215.6(PUS1):c.517del (p.His173fs)
NM_025215.6(PUS1):c.545-1G>A
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_025215.6(PUS1):c.877C>T (p.Gln293Ter)
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
NM_025215.6(PUS1):c.893_896del (p.Val298fs)
NM_025215.6(PUS1):c.916A>T (p.Lys306Ter)
NM_025215.6(PUS1):c.929del (p.Pro310fs)
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.128_130del (p.Glu43del) rs876661297
NM_182916.3(TRNT1):c.342+1G>T
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys) rs750995691

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.