List of variants in gene SLC25A38 reported as uncertain significance for anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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_017875.4(SLC25A38):c.*304C>T	rs113251543	0.00262
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.*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.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.*370C>T	rs886058472	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_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.*548G>A	rs531997173
NM_017875.4(SLC25A38):c.*718G>A	rs2041842608
NM_017875.4(SLC25A38):c.-219T>C	rs886058469
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys)	rs1293528130
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)
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn)	rs146864395
NM_017875.4(SLC25A38):c.803dup (p.Arg269fs)
NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)

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.