ClinVar Miner

List of variants in gene DDX41 studied for DDX41-related hematologic malignancy predisposition syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.1200C>T (p.Arg400=) rs335438 0.44595
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp) rs138435584 0.00032
NM_016222.4(DDX41):c.465G>A (p.Met155Ile) rs199697328 0.00031
NM_016222.4(DDX41):c.97T>C (p.Tyr33His) rs150205465 0.00023
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
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.38C>T (p.Thr13Ile) rs61736559 0.00010
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_016222.4(DDX41):c.643A>C (p.Ile215Leu) rs573545872 0.00004
NM_016222.4(DDX41):c.1547A>G (p.Tyr516Cys) rs1014402897 0.00003
NM_016222.4(DDX41):c.1187T>C (p.Ile396Thr) rs747072227 0.00002
NM_016222.4(DDX41):c.475C>T (p.Arg159Ter) rs754907965 0.00002
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) rs371460149 0.00002
NM_016222.4(DDX41):c.773C>T (p.Pro258Leu) rs1289634533 0.00002
NM_016222.4(DDX41):c.1033G>A (p.Glu345Lys) rs370129260 0.00001
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter) rs746278774 0.00001
NM_016222.4(DDX41):c.198C>A (p.Ser66Arg) rs1231474960 0.00001
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.455T>G (p.Val152Gly) rs758775538 0.00001
NM_016222.4(DDX41):c.511G>C (p.Val171Leu) rs200005940 0.00001
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) rs746166328 0.00001
NM_016222.4(DDX41):c.649T>C (p.Ser217Pro) rs376867329 0.00001
NM_016222.4(DDX41):c.776A>G (p.Tyr259Cys) rs139780256 0.00001
NM_016222.4(DDX41):c.877C>T (p.Arg293Cys) rs763133277 0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_016222.4(DDX41):c.946_947del (p.Met316fs) rs1411544367 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.1035G>C (p.Glu345Asp)
NM_016222.4(DDX41):c.1036G>C (p.Ala346Pro)
NM_016222.4(DDX41):c.1088_1090del (p.Ser363del)
NM_016222.4(DDX41):c.108T>A (p.Tyr36Ter)
NM_016222.4(DDX41):c.1105C>G (p.Arg369Gly) rs747672157
NM_016222.4(DDX41):c.1106G>A (p.Arg369Gln)
NM_016222.4(DDX41):c.1126G>A (p.Ala376Thr)
NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter) rs144057590
NM_016222.4(DDX41):c.1142dup (p.Ile382fs) rs1554111073
NM_016222.4(DDX41):c.1204G>T (p.Gly402Trp)
NM_016222.4(DDX41):c.1231-3C>G
NM_016222.4(DDX41):c.1234G>A (p.Val412Ile)
NM_016222.4(DDX41):c.1259A>G (p.Lys420Arg)
NM_016222.4(DDX41):c.1309A>G (p.Ile437Val)
NM_016222.4(DDX41):c.138+5G>A rs187714514
NM_016222.4(DDX41):c.138+5G>T rs187714514
NM_016222.4(DDX41):c.13G>T (p.Glu5Ter)
NM_016222.4(DDX41):c.1423A>T (p.Ile475Phe)
NM_016222.4(DDX41):c.1428G>T (p.Glu476Asp)
NM_016222.4(DDX41):c.1494C>A (p.Phe498Leu)
NM_016222.4(DDX41):c.1496del (p.Pro499fs)
NM_016222.4(DDX41):c.1496dup (p.Ala500fs) rs753425379
NM_016222.4(DDX41):c.1574G>A (p.Arg525His) rs869312828
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) rs866179648
NM_016222.4(DDX41):c.1589G>A (p.Gly530Asp)
NM_016222.4(DDX41):c.1603_1605delinsA (p.Phe535fs)
NM_016222.4(DDX41):c.1668G>T (p.Lys556Asn) rs969403252
NM_016222.4(DDX41):c.1709A>G (p.Asp570Gly)
NM_016222.4(DDX41):c.1759G>T (p.Gly587Cys)
NM_016222.4(DDX41):c.1850A>G (p.His617Arg)
NM_016222.4(DDX41):c.189G>C (p.Gln63His)
NM_016222.4(DDX41):c.19G>T (p.Glu7Ter) rs749405703
NM_016222.4(DDX41):c.204T>G (p.Ser68Arg)
NM_016222.4(DDX41):c.207A>C (p.Glu69Asp)
NM_016222.4(DDX41):c.214G>A (p.Gly72Arg)
NM_016222.4(DDX41):c.22C>T (p.Arg8Trp)
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs) rs1554111683
NM_016222.4(DDX41):c.27G>A (p.Lys9=)
NM_016222.4(DDX41):c.305_306del (p.Lys102fs) rs760059747
NM_016222.4(DDX41):c.323del (p.Lys108fs) rs1554111653
NM_016222.4(DDX41):c.410C>T (p.Thr137Met)
NM_016222.4(DDX41):c.423del (p.Ile142fs)
NM_016222.4(DDX41):c.434+1G>C rs1170971274
NM_016222.4(DDX41):c.435-1G>T
NM_016222.4(DDX41):c.435-2_435-1delinsCA rs869320762
NM_016222.4(DDX41):c.484C>T (p.Arg162Cys)
NM_016222.4(DDX41):c.538A>G (p.Ile180Val)
NM_016222.4(DDX41):c.55G>T (p.Gly19Ter)
NM_016222.4(DDX41):c.571+3A>G
NM_016222.4(DDX41):c.571G>A (p.Ala191Thr) rs2127437490
NM_016222.4(DDX41):c.575del (p.Ile192fs)
NM_016222.4(DDX41):c.577C>G (p.Leu193Val)
NM_016222.4(DDX41):c.62_63del (p.Ser21fs) rs756004929
NM_016222.4(DDX41):c.632G>A (p.Gly211Asp)
NM_016222.4(DDX41):c.638C>G (p.Pro213Arg)
NM_016222.4(DDX41):c.656G>A (p.Arg219His)
NM_016222.4(DDX41):c.65G>A (p.Arg22His)
NM_016222.4(DDX41):c.68C>T (p.Ser23Phe)
NM_016222.4(DDX41):c.712C>T (p.Pro238Ser)
NM_016222.4(DDX41):c.718A>G (p.Ile240Val)
NM_016222.4(DDX41):c.722T>C (p.Met241Thr)
NM_016222.4(DDX41):c.748T>G (p.Leu250Val)
NM_016222.4(DDX41):c.799C>T (p.Arg267Trp)
NM_016222.4(DDX41):c.844C>T (p.Arg282Cys)
NM_016222.4(DDX41):c.845G>A (p.Arg282His)
NM_016222.4(DDX41):c.847del (p.Leu283fs)
NM_016222.4(DDX41):c.853C>G (p.Gln285Glu)
NM_016222.4(DDX41):c.878G>A (p.Arg293His)
NM_016222.4(DDX41):c.883G>A (p.Ala295Thr)
NM_016222.4(DDX41):c.88G>A (p.Asp30Asn)
NM_016222.4(DDX41):c.900C>T (p.Gly300=)
NM_016222.4(DDX41):c.907G>A (p.Val303Met)
NM_016222.4(DDX41):c.935+1G>T
NM_016222.4(DDX41):c.935+4A>T
NM_016222.4(DDX41):c.940G>A (p.Val314Ile)
NM_016222.4(DDX41):c.959C>T (p.Thr320Ile) rs2127436611
NM_016222.4(DDX41):c.962C>T (p.Pro321Leu)
NM_016222.4(DDX41):c.963G>A (p.Pro321=)
NM_016222.4(DDX41):c.986del (p.Gln329fs) rs1291520734

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