List of variants reported as uncertain significance for X-linked sideroblastic anemia 1 by Illumina Laboratory Services, Illumina

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_017875.4(SLC25A38):c.-292G>A	rs142441701	0.01159
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.*490G>A	rs150889211	0.00096
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)	rs142420345	0.00064
NM_017875.4(SLC25A38):c.-237G>A	rs527536267	0.00051
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)	rs144319567	0.00032
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.-227G>A	rs886058468	0.00011
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr)	rs753156183	0.00010
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln)	rs372675935	0.00004
NM_000032.5(ALAS2):c.416-11T>C	rs977637650	0.00004
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=)	rs763266087	0.00002
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys)	rs754772558	0.00002
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)	rs143865753	0.00002
NM_000032.5(ALAS2):c.110G>A (p.Arg37His)	rs756790340	0.00001
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=)	rs765603040	0.00001
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=)	rs772107960	0.00001
NM_017875.4(SLC25A38):c.-325G>C	rs886058467	0.00001
NM_000032.5(ALAS2):c.-16+6A>G	rs1935989193
NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe)
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=)	rs1602244633
NM_000032.5(ALAS2):c.741C>T (p.His247=)	rs1057515971
NM_017875.4(SLC25A38):c.-219T>C	rs886058469

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