ClinVar Miner

List of variants studied for inherited aplastic anemia by DASA

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_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_001018115.3(FANCD2):c.2494+2T>C rs779552164 0.00001
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) rs1060502748
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter) rs1596520443

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