ClinVar Miner

List of variants studied for DDX41-related hematologic malignancy predisposition syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.465G>A (p.Met155Ile) rs199697328 0.00031
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_016222.4(DDX41):c.1436G>A (p.Arg479Gln) rs200307685 0.00010
NM_016222.4(DDX41):c.1099-12C>A
NM_016222.4(DDX41):c.1549+3A>G
NM_016222.4(DDX41):c.305_306del (p.Lys102fs) rs760059747
NM_016222.4(DDX41):c.445C>T (p.Pro149Ser)
NM_016222.4(DDX41):c.707C>T (p.Thr236Met)
NM_016222.4(DDX41):c.764G>A (p.Arg255His)
NM_016222.4(DDX41):c.798+11C>T
NM_016222.4(DDX41):c.798G>A (p.Ser266=)

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