ClinVar Miner

List of variants in gene SLC25A38 reported as pathogenic for anemia

Included ClinVar conditions (292):
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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) rs121918330 0.00005
NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter) rs147431446 0.00004
NM_017875.4(SLC25A38):c.277-2A>C rs1198314410 0.00001
NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu) rs762562272 0.00001
NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val) rs755205622 0.00001
NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg) rs1218815001 0.00001
NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys) rs866266558
NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter) rs2125577893
NM_017875.4(SLC25A38):c.207_214del (p.Met70fs) rs2125578591
NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs) rs2125578633
NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter) rs2125578710
NM_017875.4(SLC25A38):c.276+1G>A rs2125578753
NM_017875.4(SLC25A38):c.276+1G>T rs2125578753
NM_017875.4(SLC25A38):c.277-1G>A rs869312029
NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn) rs762067787
NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu) rs2125579714
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer) rs2125579746
NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs) rs1301033567
NM_017875.4(SLC25A38):c.362del (p.Pro121fs) rs2125579866
NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg) rs2125579946
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) rs1293528130
NM_017875.4(SLC25A38):c.401G>A (p.Arg134His) rs2041767822
NM_017875.4(SLC25A38):c.409dup (p.Ala137fs) rs2041767936
NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs) rs2125580030
NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn) rs2041768572
NM_017875.4(SLC25A38):c.457-1G>T rs1448237170
NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg) rs772425489
NM_017875.4(SLC25A38):c.475del (p.Glu159fs) rs2041773742
NM_017875.4(SLC25A38):c.480dup (p.Ile161fs) rs2125580393
NM_017875.4(SLC25A38):c.559C>T (p.Arg187Ter)
NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln) rs121918331
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.562G>C (p.Asp188His) rs2125580560
NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg) rs2125580580
NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro) rs2125580600
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395
NM_017875.4(SLC25A38):c.626-2A>T rs2125582750
NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs) rs781372292
NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs) rs2125582823
NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro) rs2125582841
NM_017875.4(SLC25A38):c.70-2A>C rs1233124208
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) rs121918332
NM_017875.4(SLC25A38):c.792+5G>C rs2125582986
NM_017875.4(SLC25A38):c.809dup (p.Phe271fs) rs2125584589
NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly) rs147431446
NM_017875.4(SLC25A38):c.858del (p.Ala287fs) rs2125584640
NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter) rs1156987118

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