ClinVar Miner

List of variants studied for inherited aplastic anemia by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000987.5(RPL26):c.-5-2A>G
NM_000987.5(RPL26):c.-6+3_-6+25del
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) rs397518451
NM_000987.5(RPL26):c.87del (p.Met30fs)

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