ClinVar Miner

List of variants in gene DDX41 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.*3C>T rs73804364 0.00886
NM_016222.4(DDX41):c.1683C>T (p.Pro561=) rs140652745 0.00703
NM_016222.4(DDX41):c.*74C>T rs78923296 0.00476
NM_016222.4(DDX41):c.1299G>A (p.Pro433=) rs61736556 0.00279
NM_016222.4(DDX41):c.1233G>A (p.Glu411=) rs147023941 0.00148
NM_016222.4(DDX41):c.139-4T>G rs192297583 0.00127
NM_016222.4(DDX41):c.1354C>T (p.Leu452=) rs143421709 0.00115
NM_016222.4(DDX41):c.1470C>T (p.Asp490=) rs151018711 0.00102
NM_016222.4(DDX41):c.1622-5C>G rs374359854 0.00055
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.741G>A (p.Glu247=) rs143274979 0.00019
NM_016222.4(DDX41):c.1399+10G>A rs200374307 0.00018
NM_016222.4(DDX41):c.291G>A (p.Lys97=) rs141619153 0.00017
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_016222.4(DDX41):c.1479C>T (p.Ser493=) rs148853192 0.00016
NM_016222.4(DDX41):c.51T>G (p.Pro17=) rs563411513 0.00014
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_016222.4(DDX41):c.38C>T (p.Thr13Ile) rs61736559 0.00010
NM_016222.4(DDX41):c.*63T>C rs937006672 0.00009
NM_016222.4(DDX41):c.690C>G (p.Gly230=) rs144003034 0.00009
NM_016222.4(DDX41):c.88G>T (p.Asp30Tyr) rs559527781 0.00008
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.1827C>T (p.Ile609=) rs771561040 0.00006
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) rs377745714 0.00005
NM_016222.4(DDX41):c.1622-3C>T rs200471726 0.00004
NM_016222.4(DDX41):c.1547A>G (p.Tyr516Cys) rs1014402897 0.00003
NM_016222.4(DDX41):c.560A>G (p.Lys187Arg) rs185950985 0.00003
NM_016222.4(DDX41):c.*194A>G rs750795230 0.00002
NM_016222.4(DDX41):c.1187T>C (p.Ile396Thr) rs747072227 0.00002
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) rs371460149 0.00002
NM_016222.4(DDX41):c.766G>A (p.Glu256Lys) rs746011550 0.00002
NM_016222.4(DDX41):c.773C>T (p.Pro258Leu) rs1289634533 0.00002
NM_016222.4(DDX41):c.*181C>G rs867695519 0.00001
NM_016222.4(DDX41):c.1033G>A (p.Glu345Lys) rs370129260 0.00001
NM_016222.4(DDX41):c.1079C>T (p.Thr360Ile) rs1284223764 0.00001
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter) rs746278774 0.00001
NM_016222.4(DDX41):c.1458A>G (p.Leu486=) rs1481876340 0.00001
NM_016222.4(DDX41):c.1650G>A (p.Ala550=) rs747056004 0.00001
NM_016222.4(DDX41):c.1665C>T (p.Ala555=) rs1356103698 0.00001
NM_016222.4(DDX41):c.198C>A (p.Ser66Arg) rs1231474960 0.00001
NM_016222.4(DDX41):c.511G>C (p.Val171Leu) rs200005940 0.00001
NM_016222.4(DDX41):c.566C>T (p.Pro189Leu) rs776934246 0.00001
NM_016222.4(DDX41):c.645-10C>T rs780120166 0.00001
NM_016222.4(DDX41):c.877C>T (p.Arg293Cys) rs763133277 0.00001
NM_016222.4(DDX41):c.936-7T>G rs146125027 0.00001
NM_016222.4(DDX41):c.946_947del (p.Met316fs) rs1411544367 0.00001
NM_016222.4(DDX41):c.1013G>A (p.Cys338Tyr) rs148384288
NM_016222.4(DDX41):c.1016G>T (p.Arg339Leu) rs774698335
NM_016222.4(DDX41):c.1105C>G (p.Arg369Gly) rs747672157
NM_016222.4(DDX41):c.1108C>T (p.Gln370Ter) rs2127436444
NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter) rs144057590
NM_016222.4(DDX41):c.1142dup (p.Ile382fs) rs1554111073
NM_016222.4(DDX41):c.1283T>C (p.Leu428Pro) rs1761050435
NM_016222.4(DDX41):c.1285C>T (p.Gln429Ter) rs2127436241
NM_016222.4(DDX41):c.1293A>C (p.Thr431=) rs746693911
NM_016222.4(DDX41):c.1332C>T (p.Asp444=) rs554494724
NM_016222.4(DDX41):c.1354del (p.Leu452fs)
NM_016222.4(DDX41):c.138+5G>A rs187714514
NM_016222.4(DDX41):c.138+5G>T rs187714514
NM_016222.4(DDX41):c.1394del (p.Gly465fs) rs759501764
NM_016222.4(DDX41):c.1474dup (p.Ala492fs) rs1188549864
NM_016222.4(DDX41):c.1496dup (p.Ala500fs) rs753425379
NM_016222.4(DDX41):c.157C>G (p.Arg53Gly) rs745421135
NM_016222.4(DDX41):c.1721del (p.Leu574fs) rs2127435669
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs) rs1554111683
NM_016222.4(DDX41):c.27+9G>A rs765022870
NM_016222.4(DDX41):c.299-3C>T rs758614565
NM_016222.4(DDX41):c.301C>T (p.Arg101Cys) rs1761223083
NM_016222.4(DDX41):c.305_306del (p.Lys102fs) rs760059747
NM_016222.4(DDX41):c.323del (p.Lys108fs) rs1554111653
NM_016222.4(DDX41):c.434+1G>C rs1170971274
NM_016222.4(DDX41):c.435-2_435-1delinsCA rs869320762
NM_016222.4(DDX41):c.5A>C (p.Glu2Ala) rs1399847240
NM_016222.4(DDX41):c.616C>G (p.Pro206Ala)
NM_016222.4(DDX41):c.681G>C (p.Thr227=) rs765996540
NM_016222.4(DDX41):c.920T>C (p.Met307Thr)
NM_016222.4(DDX41):c.926C>T (p.Thr309Ile) rs371035635
NM_016222.4(DDX41):c.959C>T (p.Thr320Ile) rs2127436611
NM_016222.4(DDX41):c.986del (p.Gln329fs) rs1291520734

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