ClinVar Miner

List of variants in gene DDX41 reported as likely pathogenic for DDX41-related hematologic malignancy predisposition syndrome

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.773C>T (p.Pro258Leu) rs1289634533 0.00002
NM_016222.4(DDX41):c.268C>T (p.Gln90Ter) rs199675507 0.00001
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter) rs200567842 0.00001
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) rs746166328 0.00001
NM_016222.4(DDX41):c.1016G>T (p.Arg339Leu) rs774698335
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr)
NM_016222.4(DDX41):c.108T>A (p.Tyr36Ter)
NM_016222.4(DDX41):c.13G>T (p.Glu5Ter)
NM_016222.4(DDX41):c.1496del (p.Pro499fs)
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs) rs1554111683
NM_016222.4(DDX41):c.305_306del (p.Lys102fs) rs760059747
NM_016222.4(DDX41):c.55G>T (p.Gly19Ter)
NM_016222.4(DDX41):c.575del (p.Ile192fs)
NM_016222.4(DDX41):c.935+1G>T

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