ClinVar Miner

List of variants studied for DDX41-related hematologic malignancy predisposition syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_016222.4(DDX41):c.1016G>T (p.Arg339Leu) rs774698335
NM_016222.4(DDX41):c.1142dup (p.Ile382fs) rs1554111073
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs) rs1554111683
NM_016222.4(DDX41):c.323del (p.Lys108fs) rs1554111653

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