ClinVar Miner

List of variants reported as uncertain significance for anemia by Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) rs906425217 0.00005
NM_000175.5(GPI):c.880G>A (p.Glu294Lys) rs560277140 0.00001
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2] rs60484081

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