ClinVar Miner

List of variants in gene combination ALAS2, LOC108663984 reported as uncertain significance for anemia

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val) rs143995220 0.00030
NM_000032.5(ALAS2):c.110G>A (p.Arg37His) rs756790340 0.00001
NM_000032.5(ALAS2):c.-15-1829T>C
NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe)

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