ClinVar Miner

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

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Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.1200C>T (p.Arg400=) rs335438 0.44246
NM_016222.4(DDX41):c.27+16G>C rs112668086 0.03248
NM_016222.4(DDX41):c.1622-20C>G rs73334184 0.01510
NM_016222.4(DDX41):c.1549+8C>T rs145507265 0.01010
NM_016222.4(DDX41):c.1683C>T (p.Pro561=) rs140652745 0.00703
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.748T>G (p.Leu250Val) rs200707924 0.00013
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.907G>A (p.Val303Met) rs141982967 0.00009
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_016222.4(DDX41):c.1016G>A (p.Arg339His) rs774698335 0.00006
NM_016222.4(DDX41):c.88G>T (p.Asp30Tyr) rs559527781 0.00006
NM_016222.4(DDX41):c.963G>A (p.Pro321=) rs200664784 0.00006
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) rs377745714 0.00005
NM_016222.4(DDX41):c.1850A>G (p.His617Arg) rs771535420 0.00004
NM_016222.4(DDX41):c.32C>T (p.Ala11Val) rs144762739 0.00004
NM_016222.4(DDX41):c.538A>G (p.Ile180Val) rs376128262 0.00004
NM_016222.4(DDX41):c.560A>G (p.Lys187Arg) rs185950985 0.00004
NM_016222.4(DDX41):c.572-3T>C rs760334582 0.00004
NM_016222.4(DDX41):c.643A>C (p.Ile215Leu) rs573545872 0.00004
NM_016222.4(DDX41):c.883G>A (p.Ala295Thr) rs748680511 0.00004
NM_016222.4(DDX41):c.107A>G (p.Tyr36Cys) rs768787901 0.00003
NM_016222.4(DDX41):c.1528C>T (p.Pro510Ser) rs199756165 0.00003
NM_016222.4(DDX41):c.1547A>G (p.Tyr516Cys) rs1014402897 0.00003
NM_016222.4(DDX41):c.1621+3G>A rs368999712 0.00003
NM_016222.4(DDX41):c.208C>T (p.Pro70Ser) rs756008087 0.00003
NM_016222.4(DDX41):c.22C>T (p.Arg8Trp) rs777823752 0.00003
NM_016222.4(DDX41):c.27G>A (p.Lys9=) rs753156035 0.00003
NM_016222.4(DDX41):c.571+3A>G rs776159825 0.00003
NM_016222.4(DDX41):c.656G>A (p.Arg219His) rs754196793 0.00003
NM_016222.4(DDX41):c.799C>T (p.Arg267Trp) rs748590587 0.00003
NM_016222.4(DDX41):c.845G>A (p.Arg282His) rs756029240 0.00003
NM_016222.4(DDX41):c.1187T>C (p.Ile396Thr) rs747072227 0.00002
NM_016222.4(DDX41):c.1234G>A (p.Val412Ile) rs367653265 0.00002
NM_016222.4(DDX41):c.1471G>A (p.Val491Ile) rs757449267 0.00002
NM_016222.4(DDX41):c.367G>A (p.Gly123Ser) rs764853110 0.00002
NM_016222.4(DDX41):c.451T>C (p.Tyr151His) rs747442017 0.00002
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) rs371460149 0.00002
NM_016222.4(DDX41):c.712C>T (p.Pro238Ser) rs376093707 0.00002
NM_016222.4(DDX41):c.764G>A (p.Arg255His) rs775735135 0.00002
NM_016222.4(DDX41):c.773C>T (p.Pro258Leu) rs1289634533 0.00002
NM_016222.4(DDX41):c.844C>T (p.Arg282Cys) rs764156386 0.00002
NM_016222.4(DDX41):c.893T>C (p.Ile298Thr) rs778667883 0.00002
NM_016222.4(DDX41):c.937G>A (p.Gly313Ser) rs780667117 0.00002
NM_016222.4(DDX41):c.1015C>T (p.Arg339Cys) rs759862062 0.00001
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr) rs1761092414 0.00001
NM_016222.4(DDX41):c.1033G>A (p.Glu345Lys) rs370129260 0.00001
NM_016222.4(DDX41):c.104C>T (p.Pro35Leu) rs984823447 0.00001
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter) rs746278774 0.00001
NM_016222.4(DDX41):c.1231-3C>G rs372190702 0.00001
NM_016222.4(DDX41):c.1231-5G>A rs761710936 0.00001
NM_016222.4(DDX41):c.1276G>A (p.Glu426Lys) rs376656648 0.00001
NM_016222.4(DDX41):c.1309A>G (p.Ile437Val) rs1761039131 0.00001
NM_016222.4(DDX41):c.1435C>T (p.Arg479Trp) rs768638631 0.00001
NM_016222.4(DDX41):c.1510G>A (p.Val504Ile) rs753078023 0.00001
NM_016222.4(DDX41):c.1538T>C (p.Ile513Thr) rs772902682 0.00001
NM_016222.4(DDX41):c.198C>A (p.Ser66Arg) rs1231474960 0.00001
NM_016222.4(DDX41):c.214G>A (p.Gly72Arg) rs752494819 0.00001
NM_016222.4(DDX41):c.255C>G (p.Val85=) rs1427966502 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.475C>T (p.Arg159Ter) rs754907965 0.00001
NM_016222.4(DDX41):c.484C>T (p.Arg162Cys) rs766175686 0.00001
NM_016222.4(DDX41):c.491G>A (p.Arg164Gln) rs761993024 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.577C>G (p.Leu193Val) rs1004241531 0.00001
NM_016222.4(DDX41):c.616C>G (p.Pro206Ala) rs373575560 0.00001
NM_016222.4(DDX41):c.649T>C (p.Ser217Pro) rs376867329 0.00001
NM_016222.4(DDX41):c.707C>T (p.Thr236Met) rs747256985 0.00001
NM_016222.4(DDX41):c.718A>G (p.Ile240Val) rs139112542 0.00001
NM_016222.4(DDX41):c.722T>C (p.Met241Thr) rs778216275 0.00001
NM_016222.4(DDX41):c.776A>G (p.Tyr259Cys) rs139780256 0.00001
NM_016222.4(DDX41):c.797C>T (p.Ser266Leu) rs758121960 0.00001
NM_016222.4(DDX41):c.798G>A (p.Ser266=) rs750013130 0.00001
NM_016222.4(DDX41):c.809C>T (p.Ala270Val) rs745544108 0.00001
NM_016222.4(DDX41):c.877C>T (p.Arg293Cys) rs763133277 0.00001
NM_016222.4(DDX41):c.878G>A (p.Arg293His) rs773162771 0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_016222.4(DDX41):c.940G>A (p.Val314Ile) rs1761097601 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.1019A>C (p.Tyr340Ser)
NM_016222.4(DDX41):c.1021C>T (p.Leu341=)
NM_016222.4(DDX41):c.1035G>C (p.Glu345Asp) rs1761092020
NM_016222.4(DDX41):c.1036G>C (p.Ala346Pro) rs1761091837
NM_016222.4(DDX41):c.1042C>T (p.Arg348Cys) rs2532080892
NM_016222.4(DDX41):c.1042_1043insATGC (p.Arg348fs)
NM_016222.4(DDX41):c.1088_1090del (p.Ser363del) rs1234975047
NM_016222.4(DDX41):c.108T>A (p.Tyr36Ter) rs2532091583
NM_016222.4(DDX41):c.1098+2T>C
NM_016222.4(DDX41):c.1099-12C>A
NM_016222.4(DDX41):c.1099-3C>G
NM_016222.4(DDX41):c.1105C>G (p.Arg369Gly) rs747672157
NM_016222.4(DDX41):c.1106G>A (p.Arg369Gln) rs1761077648
NM_016222.4(DDX41):c.1108C>T (p.Gln370Ter) rs2127436444
NM_016222.4(DDX41):c.1124G>A (p.Ser375Asn)
NM_016222.4(DDX41):c.1126G>A (p.Ala376Thr) rs2532079920
NM_016222.4(DDX41):c.113C>G (p.Pro38Arg) rs11555633
NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter) rs144057590
NM_016222.4(DDX41):c.1142dup (p.Ile382fs) rs1554111073
NM_016222.4(DDX41):c.1159A>C (p.Lys387Gln) rs2532079796
NM_016222.4(DDX41):c.1168C>T (p.Leu390Phe) rs2532079770
NM_016222.4(DDX41):c.1204G>T (p.Gly402Trp) rs2532079621
NM_016222.4(DDX41):c.1259A>G (p.Lys420Arg) rs2532077664
NM_016222.4(DDX41):c.1354del (p.Leu452fs) rs2532076691
NM_016222.4(DDX41):c.138+1G>C
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) rs779029308
NM_016222.4(DDX41):c.1423A>T (p.Ile475Phe) rs2532075878
NM_016222.4(DDX41):c.1428G>T (p.Glu476Asp) rs2532075852
NM_016222.4(DDX41):c.1494C>A (p.Phe498Leu) rs2532075672
NM_016222.4(DDX41):c.1496del (p.Pro499fs) rs753425379
NM_016222.4(DDX41):c.1496dup (p.Ala500fs) rs753425379
NM_016222.4(DDX41):c.1542G>C (p.Glu514Asp)
NM_016222.4(DDX41):c.1549+3A>G
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) rs2532074874
NM_016222.4(DDX41):c.1603_1605delinsA (p.Phe535fs) rs2532074787
NM_016222.4(DDX41):c.1621_1621+10del
NM_016222.4(DDX41):c.1622-3C>A rs200471726
NM_016222.4(DDX41):c.1668G>T (p.Lys556Asn) rs969403252
NM_016222.4(DDX41):c.1709A>G (p.Asp570Gly) rs2532073533
NM_016222.4(DDX41):c.1759G>T (p.Gly587Cys) rs2532072244
NM_016222.4(DDX41):c.178del (p.Glu60fs)
NM_016222.4(DDX41):c.1852A>G (p.Ser618Gly)
NM_016222.4(DDX41):c.189G>C (p.Gln63His) rs749201065
NM_016222.4(DDX41):c.199G>C (p.Gly67Arg) rs970338234
NM_016222.4(DDX41):c.19G>T (p.Glu7Ter) rs749405703
NM_016222.4(DDX41):c.204T>G (p.Ser68Arg) rs2532090206
NM_016222.4(DDX41):c.207A>C (p.Glu69Asp) rs1038728566
NM_016222.4(DDX41):c.209C>T (p.Pro70Leu)
NM_016222.4(DDX41):c.212G>A (p.Arg71Gln) rs1007652200
NM_016222.4(DDX41):c.223G>A (p.Asp75Asn) rs2532090112
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs) rs1554111683
NM_016222.4(DDX41):c.27+2_27+5dup rs142465759
NM_016222.4(DDX41):c.299-3C>A rs758614565
NM_016222.4(DDX41):c.305_306del (p.Lys102fs) rs760059747
NM_016222.4(DDX41):c.323del (p.Lys108fs) rs1554111653
NM_016222.4(DDX41):c.400A>G (p.Lys134Glu) rs2532088584
NM_016222.4(DDX41):c.410C>T (p.Thr137Met) rs1407903590
NM_016222.4(DDX41):c.423del (p.Ile142fs) rs2532088466
NM_016222.4(DDX41):c.434+1G>C rs1170971274
NM_016222.4(DDX41):c.434+1G>T
NM_016222.4(DDX41):c.435-1G>T rs200295070
NM_016222.4(DDX41):c.435-2_435-1delinsCA rs869320762
NM_016222.4(DDX41):c.435-6C>G rs769921411
NM_016222.4(DDX41):c.445C>T (p.Pro149Ser)
NM_016222.4(DDX41):c.448C>T (p.Arg150Cys) rs1420691936
NM_016222.4(DDX41):c.458T>G (p.Leu153Arg) rs2532087934
NM_016222.4(DDX41):c.47_48del (p.Val16fs)
NM_016222.4(DDX41):c.4G>C (p.Glu2Gln) rs950718925
NM_016222.4(DDX41):c.524G>A (p.Gly175Asp) rs1233284218
NM_016222.4(DDX41):c.524G>T (p.Gly175Val) rs1233284218
NM_016222.4(DDX41):c.533dup (p.Pro179fs)
NM_016222.4(DDX41):c.535C>T (p.Pro179Ser)
NM_016222.4(DDX41):c.547T>A (p.Phe183Ile)
NM_016222.4(DDX41):c.55G>T (p.Gly19Ter) rs780643002
NM_016222.4(DDX41):c.571G>A (p.Ala191Thr) rs2127437490
NM_016222.4(DDX41):c.572-3T>A
NM_016222.4(DDX41):c.575del (p.Ile192fs) rs2532085882
NM_016222.4(DDX41):c.622C>G (p.Gln208Glu)
NM_016222.4(DDX41):c.629A>C (p.Gln210Pro)
NM_016222.4(DDX41):c.62_63del (p.Ser21fs) rs756004929
NM_016222.4(DDX41):c.632G>A (p.Gly211Asp) rs1272360706
NM_016222.4(DDX41):c.638C>G (p.Pro213Arg) rs766913824
NM_016222.4(DDX41):c.647dup (p.Ser217fs)
NM_016222.4(DDX41):c.65G>A (p.Arg22His) rs1330322681
NM_016222.4(DDX41):c.668G>A (p.Gly223Asp)
NM_016222.4(DDX41):c.68C>T (p.Ser23Phe) rs755765308
NM_016222.4(DDX41):c.72G>C (p.Glu24Asp) rs2532091739
NM_016222.4(DDX41):c.739G>A (p.Glu247Lys) rs2532084593
NM_016222.4(DDX41):c.741G>C (p.Glu247Asp) rs143274979
NM_016222.4(DDX41):c.751C>G (p.Pro251Ala) rs747842313
NM_016222.4(DDX41):c.798+11C>T
NM_016222.4(DDX41):c.804del (p.Glu268fs)
NM_016222.4(DDX41):c.82G>A (p.Glu28Lys) rs1433636328
NM_016222.4(DDX41):c.839A>G (p.Tyr280Cys) rs1761146090
NM_016222.4(DDX41):c.847del (p.Leu283fs) rs1761145210
NM_016222.4(DDX41):c.853C>G (p.Gln285Glu) rs2532083766
NM_016222.4(DDX41):c.881G>T (p.Cys294Phe) rs1187779694
NM_016222.4(DDX41):c.88G>A (p.Asp30Asn) rs559527781
NM_016222.4(DDX41):c.89A>C (p.Asp30Ala) rs2532091672
NM_016222.4(DDX41):c.900C>T (p.Gly300=) rs2532083613
NM_016222.4(DDX41):c.935+1G>T rs2532083492
NM_016222.4(DDX41):c.935+4A>T rs1391902763
NM_016222.4(DDX41):c.938G>A (p.Gly313Asp) rs768156226
NM_016222.4(DDX41):c.959C>T (p.Thr320Ile) rs2127436611
NM_016222.4(DDX41):c.962C>T (p.Pro321Leu) rs2532081211
NM_016222.4(DDX41):c.986AGA[2] (p.Lys331del) rs752201749
NM_016222.4(DDX41):c.986del (p.Gln329fs) rs1291520734

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