ClinVar Miner

List of variants reported as uncertain significance for Heinz body anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000517.6(HBA2):c.-59C>T rs1277780626
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.316-3C>T rs33913413

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