ClinVar Miner

List of variants in gene DDX41 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 200
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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.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_016222.4(DDX41):c.1436G>A (p.Arg479Gln) rs200307685 0.00010
NM_016222.4(DDX41):c.907G>A (p.Val303Met) rs141982967 0.00009
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.1622-3C>T rs200471726 0.00004
NM_016222.4(DDX41):c.1733-3C>T rs750355279 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.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.27G>A (p.Lys9=) rs753156035 0.00003
NM_016222.4(DDX41):c.487G>A (p.Val163Met) rs773515517 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.1187T>C (p.Ile396Thr) rs747072227 0.00002
NM_016222.4(DDX41):c.1234G>A (p.Val412Ile) rs367653265 0.00002
NM_016222.4(DDX41):c.1395C>T (p.Gly465=) rs766760626 0.00002
NM_016222.4(DDX41):c.1471G>A (p.Val491Ile) rs757449267 0.00002
NM_016222.4(DDX41):c.219T>G (p.Asp73Glu) rs781615975 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.644T>C (p.Ile215Thr) rs369566052 0.00002
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) rs371460149 0.00002
NM_016222.4(DDX41):c.764G>A (p.Arg255His) rs775735135 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.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.1033G>A (p.Glu345Lys) rs370129260 0.00001
NM_016222.4(DDX41):c.104C>T (p.Pro35Leu) rs984823447 0.00001
NM_016222.4(DDX41):c.1063G>A (p.Glu355Lys) rs778864620 0.00001
NM_016222.4(DDX41):c.1225A>G (p.Ile409Val) rs752416266 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.1435C>T (p.Arg479Trp) rs768638631 0.00001
NM_016222.4(DDX41):c.1510G>A (p.Val504Ile) rs753078023 0.00001
NM_016222.4(DDX41):c.1577C>T (p.Ser526Leu) rs774299454 0.00001
NM_016222.4(DDX41):c.1684G>A (p.Val562Met) rs746326361 0.00001
NM_016222.4(DDX41):c.198C>A (p.Ser66Arg) rs1231474960 0.00001
NM_016222.4(DDX41):c.248C>T (p.Ser83Phe) rs771776006 0.00001
NM_016222.4(DDX41):c.253G>T (p.Val85Phe) rs773991873 0.00001
NM_016222.4(DDX41):c.299-3C>T rs758614565 0.00001
NM_016222.4(DDX41):c.455T>G (p.Val152Gly) rs758775538 0.00001
NM_016222.4(DDX41):c.479A>G (p.His160Arg) rs879654141 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.616C>G (p.Pro206Ala) rs373575560 0.00001
NM_016222.4(DDX41):c.655C>T (p.Arg219Cys) rs1162015461 0.00001
NM_016222.4(DDX41):c.673G>A (p.Ala225Thr) rs773819724 0.00001
NM_016222.4(DDX41):c.707C>T (p.Thr236Met) rs747256985 0.00001
NM_016222.4(DDX41):c.715G>A (p.Val239Ile) rs1352012150 0.00001
NM_016222.4(DDX41):c.722T>C (p.Met241Thr) rs778216275 0.00001
NM_016222.4(DDX41):c.763C>T (p.Arg255Cys) rs760338178 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.901A>G (p.Met301Val) rs1761140994 0.00001
NM_016222.4(DDX41):c.920T>G (p.Met307Arg) rs996454252 0.00001
NM_016222.4(DDX41):c.952G>T (p.Val318Leu) rs758175653 0.00001
NM_016222.4(DDX41):c.968G>A (p.Arg323His) rs1248764875 0.00001
NM_016222.4(DDX41):c.-2G>C
NM_016222.4(DDX41):c.1010T>A (p.Ile337Asn)
NM_016222.4(DDX41):c.1042C>T (p.Arg348Cys) rs2532080892
NM_016222.4(DDX41):c.1043G>T (p.Arg348Leu)
NM_016222.4(DDX41):c.1063G>C (p.Glu355Gln)
NM_016222.4(DDX41):c.1076G>A (p.Arg359His)
NM_016222.4(DDX41):c.1088_1090del (p.Ser363del) rs1234975047
NM_016222.4(DDX41):c.1095C>G (p.Phe365Leu)
NM_016222.4(DDX41):c.1099-5C>G
NM_016222.4(DDX41):c.1099-5C>T
NM_016222.4(DDX41):c.1117C>A (p.Leu373Ile)
NM_016222.4(DDX41):c.1134G>A (p.Met378Ile)
NM_016222.4(DDX41):c.113C>G (p.Pro38Arg) rs11555633
NM_016222.4(DDX41):c.113C>T (p.Pro38Leu) rs11555633
NM_016222.4(DDX41):c.1154T>C (p.Phe385Ser)
NM_016222.4(DDX41):c.1163G>T (p.Ser388Ile)
NM_016222.4(DDX41):c.1171G>A (p.Val391Ile)
NM_016222.4(DDX41):c.1192G>C (p.Val398Leu) rs1321675449
NM_016222.4(DDX41):c.1199G>A (p.Arg400His)
NM_016222.4(DDX41):c.119G>T (p.Arg40Leu)
NM_016222.4(DDX41):c.1238A>G (p.Glu413Gly)
NM_016222.4(DDX41):c.123G>T (p.Gln41His)
NM_016222.4(DDX41):c.1252G>A (p.Glu418Lys)
NM_016222.4(DDX41):c.125G>T (p.Arg42Leu)
NM_016222.4(DDX41):c.1262T>G (p.Met421Arg)
NM_016222.4(DDX41):c.1264G>A (p.Val422Met)
NM_016222.4(DDX41):c.1273C>T (p.Leu425Phe) rs2532077626
NM_016222.4(DDX41):c.1274T>A (p.Leu425His)
NM_016222.4(DDX41):c.1286A>G (p.Gln429Arg)
NM_016222.4(DDX41):c.1298C>T (p.Pro433Leu) rs1761049660
NM_016222.4(DDX41):c.1303-3C>T rs2532076907
NM_016222.4(DDX41):c.1303G>T (p.Val435Leu)
NM_016222.4(DDX41):c.1321A>G (p.Lys441Glu)
NM_016222.4(DDX41):c.1322A>G (p.Lys441Arg)
NM_016222.4(DDX41):c.1324A>G (p.Lys442Glu)
NM_016222.4(DDX41):c.1325A>C (p.Lys442Thr)
NM_016222.4(DDX41):c.1330G>A (p.Asp444Asn)
NM_016222.4(DDX41):c.1331A>T (p.Asp444Val)
NM_016222.4(DDX41):c.1365G>A (p.Lys455=)
NM_016222.4(DDX41):c.138+5G>T rs187714514
NM_016222.4(DDX41):c.139-21G>A
NM_016222.4(DDX41):c.139-3C>G
NM_016222.4(DDX41):c.1392G>A (p.Gly464=)
NM_016222.4(DDX41):c.1428G>T (p.Glu476Asp) rs2532075852
NM_016222.4(DDX41):c.1474G>A (p.Ala492Thr)
NM_016222.4(DDX41):c.1549+3A>G
NM_016222.4(DDX41):c.1579G>A (p.Gly527Arg)
NM_016222.4(DDX41):c.1590C>T (p.Gly530=)
NM_016222.4(DDX41):c.1592T>A (p.Ile531Asn)
NM_016222.4(DDX41):c.1600A>G (p.Thr534Ala)
NM_016222.4(DDX41):c.1616C>T (p.Ala539Val)
NM_016222.4(DDX41):c.1621+1G>T
NM_016222.4(DDX41):c.1621+5G>T rs2127435833
NM_016222.4(DDX41):c.1622-2dup
NM_016222.4(DDX41):c.1622-3C>A rs200471726
NM_016222.4(DDX41):c.1630G>A (p.Val544Met)
NM_016222.4(DDX41):c.1631T>G (p.Val544Gly)
NM_016222.4(DDX41):c.1668G>T (p.Lys556Asn) rs969403252
NM_016222.4(DDX41):c.1681C>T (p.Pro561Ser)
NM_016222.4(DDX41):c.1684G>T (p.Val562Leu)
NM_016222.4(DDX41):c.1717A>T (p.Met573Leu)
NM_016222.4(DDX41):c.1726A>C (p.Ile576Leu)
NM_016222.4(DDX41):c.1733-3C>A
NM_016222.4(DDX41):c.1738C>T (p.Arg580Cys)
NM_016222.4(DDX41):c.1803G>A (p.Met601Ile)
NM_016222.4(DDX41):c.1831C>T (p.Arg611Cys)
NM_016222.4(DDX41):c.191A>G (p.Gln64Arg) rs2532090262
NM_016222.4(DDX41):c.202A>G (p.Ser68Gly)
NM_016222.4(DDX41):c.202A>T (p.Ser68Cys)
NM_016222.4(DDX41):c.208C>A (p.Pro70Thr)
NM_016222.4(DDX41):c.212G>A (p.Arg71Gln) rs1007652200
NM_016222.4(DDX41):c.23G>T (p.Arg8Leu) rs1761268384
NM_016222.4(DDX41):c.242C>A (p.Pro81His)
NM_016222.4(DDX41):c.27+5G>A
NM_016222.4(DDX41):c.280C>T (p.Leu94Phe)
NM_016222.4(DDX41):c.298+5G>T
NM_016222.4(DDX41):c.299-5C>T
NM_016222.4(DDX41):c.31G>T (p.Ala11Ser)
NM_016222.4(DDX41):c.34C>T (p.Arg12Cys)
NM_016222.4(DDX41):c.356G>C (p.Ser119Thr)
NM_016222.4(DDX41):c.374-12CT[3]
NM_016222.4(DDX41):c.393G>C (p.Glu131Asp)
NM_016222.4(DDX41):c.406A>G (p.Ile136Val)
NM_016222.4(DDX41):c.410C>T (p.Thr137Met) rs1407903590
NM_016222.4(DDX41):c.448C>T (p.Arg150Cys) rs1420691936
NM_016222.4(DDX41):c.44A>C (p.Glu15Ala)
NM_016222.4(DDX41):c.46G>T (p.Val16Leu)
NM_016222.4(DDX41):c.472G>A (p.Glu158Lys) rs1761199936
NM_016222.4(DDX41):c.480T>A (p.His160Gln)
NM_016222.4(DDX41):c.485G>A (p.Arg162His)
NM_016222.4(DDX41):c.497A>G (p.Lys166Arg)
NM_016222.4(DDX41):c.498A>T (p.Lys166Asn)
NM_016222.4(DDX41):c.505A>G (p.Ile169Val)
NM_016222.4(DDX41):c.520G>C (p.Asp174His)
NM_016222.4(DDX41):c.521A>T (p.Asp174Val)
NM_016222.4(DDX41):c.527T>C (p.Ile176Thr)
NM_016222.4(DDX41):c.532C>T (p.Pro178Ser)
NM_016222.4(DDX41):c.546C>G (p.Ser182Arg)
NM_016222.4(DDX41):c.549C>T (p.Phe183=)
NM_016222.4(DDX41):c.578T>C (p.Leu193Pro) rs2532085869
NM_016222.4(DDX41):c.583G>A (p.Gly195Ser) rs771510721
NM_016222.4(DDX41):c.591G>C (p.Lys197Asn)
NM_016222.4(DDX41):c.613A>G (p.Thr205Ala)
NM_016222.4(DDX41):c.632G>A (p.Gly211Asp) rs1272360706
NM_016222.4(DDX41):c.644+3G>A
NM_016222.4(DDX41):c.65G>A (p.Arg22His) rs1330322681
NM_016222.4(DDX41):c.681G>A (p.Thr227=)
NM_016222.4(DDX41):c.68C>G (p.Ser23Cys)
NM_016222.4(DDX41):c.700G>A (p.Val234Met)
NM_016222.4(DDX41):c.700G>C (p.Val234Leu)
NM_016222.4(DDX41):c.728G>T (p.Cys243Phe)
NM_016222.4(DDX41):c.751C>G (p.Pro251Ala) rs747842313
NM_016222.4(DDX41):c.751C>T (p.Pro251Ser) rs747842313
NM_016222.4(DDX41):c.769G>C (p.Gly257Arg) rs2532084369
NM_016222.4(DDX41):c.790T>A (p.Cys264Ser)
NM_016222.4(DDX41):c.798+5G>A
NM_016222.4(DDX41):c.799-1G>A
NM_016222.4(DDX41):c.800G>A (p.Arg267Gln) rs1000039111
NM_016222.4(DDX41):c.826A>G (p.Ile276Val)
NM_016222.4(DDX41):c.834G>T (p.Glu278Asp)
NM_016222.4(DDX41):c.850C>G (p.Leu284Val)
NM_016222.4(DDX41):c.892A>C (p.Ile298Leu)
NM_016222.4(DDX41):c.905C>T (p.Ser302Phe)
NM_016222.4(DDX41):c.916C>G (p.Gln306Glu)
NM_016222.4(DDX41):c.926C>T (p.Thr309Ile) rs371035635
NM_016222.4(DDX41):c.935+4A>T rs1391902763
NM_016222.4(DDX41):c.936-5C>T
NM_016222.4(DDX41):c.938G>A (p.Gly313Asp) rs768156226
NM_016222.4(DDX41):c.952G>A (p.Val318Met) rs758175653
NM_016222.4(DDX41):c.959C>T (p.Thr320Ile) rs2127436611
NM_016222.4(DDX41):c.980T>G (p.Leu327Trp)
NM_016222.4(DDX41):c.994A>G (p.Met332Val)

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