ClinVar Miner

List of variants studied for sideroblastic anemia by 3billion

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu) rs745595833 0.00004
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter) rs895175332
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)

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