List of variants in gene SLC25A38 studied for Refractory anemia with ringed sideroblasts

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=)	rs2270770	0.39870
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.-209A>G	rs143903497	0.01332
NM_017875.4(SLC25A38):c.*431G>A	rs73058292	0.00540
NM_017875.4(SLC25A38):c.*809C>T	rs71325527	0.00540
NM_017875.4(SLC25A38):c.-161G>A	rs528990278	0.00120
NM_017875.4(SLC25A38):c.*404G>A	rs886058473	0.00011
NM_017875.4(SLC25A38):c.*370C>T	rs886058472	0.00004
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)	rs765578993	0.00001
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe)	rs764125735	0.00001
GRCh37/hg19 3p22.1(chr3:39423783-39438788)x3
NM_017875.4(SLC25A38):c.*642del	rs34288981
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=)	rs886058471

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