ClinVar Miner

List of variants in gene NEDD4L reported as uncertain significance for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_001144967.3(NEDD4L):c.544T>C (p.Ser182Pro) rs760992833 0.00006
NM_001144967.3(NEDD4L):c.965A>G (p.Asn322Ser) rs749019037 0.00005
NM_001144967.3(NEDD4L):c.1691C>A (p.Thr564Lys) rs769198983 0.00004
NM_001144967.3(NEDD4L):c.2273A>G (p.Asn758Ser) rs202127939 0.00004
NM_001144967.3(NEDD4L):c.871C>G (p.Leu291Val) rs773477776 0.00004
NM_001144967.3(NEDD4L):c.1254G>A (p.Met418Ile) rs780996467 0.00003
NM_001144967.3(NEDD4L):c.1377+7C>T rs372739641 0.00003
NM_001144967.3(NEDD4L):c.1877A>C (p.Asn626Thr) rs1008436842 0.00003
NM_001144967.3(NEDD4L):c.2093A>G (p.Asn698Ser) rs377143286 0.00003
NM_001144967.3(NEDD4L):c.1316C>T (p.Pro439Leu) rs775630982 0.00002
NM_001144967.3(NEDD4L):c.1400G>A (p.Arg467His) rs781089843 0.00002
NM_001144967.3(NEDD4L):c.1457A>G (p.Asn486Ser) rs965302278 0.00002
NM_001144967.3(NEDD4L):c.1504G>A (p.Gly502Ser) rs763660568 0.00002
NM_001144967.3(NEDD4L):c.1510G>A (p.Glu504Lys) rs1027863827 0.00002
NM_001144967.3(NEDD4L):c.1882T>A (p.Phe628Ile) rs1477791039 0.00002
NM_001144967.3(NEDD4L):c.1897C>T (p.Arg633Trp) rs1455899867 0.00002
NM_001144967.3(NEDD4L):c.2665C>T (p.Leu889Phe) rs775922627 0.00002
NM_001144967.3(NEDD4L):c.2873G>A (p.Arg958Gln) rs777624478 0.00002
NM_001144967.3(NEDD4L):c.496C>G (p.Gln166Glu) rs1339990901 0.00002
NM_001144967.3(NEDD4L):c.740G>A (p.Arg247Gln) rs747072217 0.00002
NM_001144967.3(NEDD4L):c.980G>A (p.Ser327Asn) rs190926188 0.00002
NM_001144967.3(NEDD4L):c.990+9del rs1253829474 0.00002
NM_001144967.3(NEDD4L):c.1154C>T (p.Pro385Leu) rs543506411 0.00001
NM_001144967.3(NEDD4L):c.1223A>G (p.Asn408Ser) rs759746029 0.00001
NM_001144967.3(NEDD4L):c.1234A>G (p.Thr412Ala) rs375632687 0.00001
NM_001144967.3(NEDD4L):c.1257+4C>T rs745584603 0.00001
NM_001144967.3(NEDD4L):c.1298A>G (p.Asn433Ser) rs1159067435 0.00001
NM_001144967.3(NEDD4L):c.1494C>G (p.Phe498Leu) rs752290215 0.00001
NM_001144967.3(NEDD4L):c.1501C>G (p.Pro501Ala) rs1214237303 0.00001
NM_001144967.3(NEDD4L):c.1505G>A (p.Gly502Asp) rs1463349898 0.00001
NM_001144967.3(NEDD4L):c.1535G>A (p.Arg512Gln) rs1365042367 0.00001
NM_001144967.3(NEDD4L):c.1676A>G (p.His559Arg) rs958611451 0.00001
NM_001144967.3(NEDD4L):c.1898G>A (p.Arg633Gln) rs748722766 0.00001
NM_001144967.3(NEDD4L):c.2113G>A (p.Asp705Asn) rs2046318011 0.00001
NM_001144967.3(NEDD4L):c.2205T>G (p.Phe735Leu) rs1242218314 0.00001
NM_001144967.3(NEDD4L):c.2227C>G (p.Gln743Glu) rs1235631582 0.00001
NM_001144967.3(NEDD4L):c.2378A>G (p.Asn793Ser) rs773223658 0.00001
NM_001144967.3(NEDD4L):c.2425G>A (p.Asp809Asn) rs868820698 0.00001
NM_001144967.3(NEDD4L):c.2465A>C (p.Lys822Thr) rs778557607 0.00001
NM_001144967.3(NEDD4L):c.2476G>A (p.Ala826Thr) rs1254034796 0.00001
NM_001144967.3(NEDD4L):c.2566G>A (p.Gly856Ser) rs867279787 0.00001
NM_001144967.3(NEDD4L):c.2887A>T (p.Met963Leu) rs1209912013 0.00001
NM_001144967.3(NEDD4L):c.445A>G (p.Lys149Glu) rs758216461 0.00001
NM_001144967.3(NEDD4L):c.482A>G (p.Glu161Gly) rs746022345 0.00001
NM_001144967.3(NEDD4L):c.515A>G (p.His172Arg) rs772551955 0.00001
NM_001144967.3(NEDD4L):c.534C>G (p.Asp178Glu) rs903587997 0.00001
NM_001144967.3(NEDD4L):c.545C>T (p.Ser182Leu) rs770647033 0.00001
NM_001144967.3(NEDD4L):c.685G>A (p.Val229Met) rs752858201 0.00001
NM_001144967.3(NEDD4L):c.718A>G (p.Ile240Val) rs1260961412 0.00001
NM_001144967.3(NEDD4L):c.742C>T (p.Arg248Cys) rs770645785 0.00001
NM_001144967.3(NEDD4L):c.799G>A (p.Gly267Arg) rs1363271940 0.00001
NM_001144967.3(NEDD4L):c.901C>T (p.Arg301Trp) rs968257095 0.00001
GRCh37/hg19 18q21.31(chr18:55668092-55905883)x4
GRCh37/hg19 18q21.31(chr18:56018446-56116713)x3
NC_000018.9:g.(?_55710610)_56069772del
NC_000018.9:g.(?_55833000)_(55833113_?)del
NC_000018.9:g.(?_55833000)_(55833113_?)dup
NC_000018.9:g.(?_55833000)_(55919306_?)dup
NC_000018.9:g.(?_55833000)_(56063501_?)del
NC_000018.9:g.(?_55833010)_(55833103_?)del
NC_000018.9:g.(?_55983194)_(56033480_?)dup
NC_000018.9:g.(?_55996962)_(55997971_?)del
NC_000018.9:g.(?_56018203)_(56063521_?)dup
NC_000018.9:g.(?_56018213)_(56063501_?)dup
NM_001144967.3(NEDD4L):c.1006T>C (p.Ser336Pro) rs2041359916
NM_001144967.3(NEDD4L):c.101A>G (p.Lys34Arg)
NM_001144967.3(NEDD4L):c.1037C>T (p.Ala346Val) rs763389898
NM_001144967.3(NEDD4L):c.1051G>C (p.Gly351Arg)
NM_001144967.3(NEDD4L):c.1073C>G (p.Ala358Gly)
NM_001144967.3(NEDD4L):c.1126-5_1126-2del rs2042353568
NM_001144967.3(NEDD4L):c.1132G>A (p.Val378Met) rs2145157218
NM_001144967.3(NEDD4L):c.1138T>C (p.Tyr380His) rs2042355371
NM_001144967.3(NEDD4L):c.1144C>A (p.His382Asn)
NM_001144967.3(NEDD4L):c.1145A>G (p.His382Arg) rs1039095191
NM_001144967.3(NEDD4L):c.1151C>T (p.Thr384Met)
NM_001144967.3(NEDD4L):c.1198C>T (p.Arg400Cys) rs1460158008
NM_001144967.3(NEDD4L):c.1205A>G (p.Tyr402Cys)
NM_001144967.3(NEDD4L):c.1208A>G (p.Tyr403Cys)
NM_001144967.3(NEDD4L):c.121A>G (p.Ser41Gly) rs2036786192
NM_001144967.3(NEDD4L):c.1224T>A (p.Asn408Lys) rs1202824499
NM_001144967.3(NEDD4L):c.1229C>G (p.Thr410Ser) rs765354549
NM_001144967.3(NEDD4L):c.1244G>A (p.Arg415Gln) rs1257608713
NM_001144967.3(NEDD4L):c.1249A>G (p.Ile417Val) rs1057524052
NM_001144967.3(NEDD4L):c.1252A>T (p.Met418Leu)
NM_001144967.3(NEDD4L):c.1253T>C (p.Met418Thr)
NM_001144967.3(NEDD4L):c.127C>T (p.Pro43Ser)
NM_001144967.3(NEDD4L):c.1280G>A (p.Gly427Glu)
NM_001144967.3(NEDD4L):c.128C>T (p.Pro43Leu)
NM_001144967.3(NEDD4L):c.1294A>G (p.Ser432Gly) rs1359587899
NM_001144967.3(NEDD4L):c.1321A>G (p.Ile441Val)
NM_001144967.3(NEDD4L):c.1324C>T (p.Arg442Cys)
NM_001144967.3(NEDD4L):c.1325G>T (p.Arg442Leu)
NM_001144967.3(NEDD4L):c.134T>C (p.Val45Ala)
NM_001144967.3(NEDD4L):c.1352C>T (p.Thr451Ile) rs2042454132
NM_001144967.3(NEDD4L):c.1366G>A (p.Ala456Thr)
NM_001144967.3(NEDD4L):c.1382C>A (p.Ala461Asp)
NM_001144967.3(NEDD4L):c.1399C>T (p.Arg467Cys)
NM_001144967.3(NEDD4L):c.1405G>A (p.Ala469Thr)
NM_001144967.3(NEDD4L):c.1424C>T (p.Ser475Phe)
NM_001144967.3(NEDD4L):c.1430C>T (p.Pro477Leu)
NM_001144967.3(NEDD4L):c.1437C>G (p.Ser479=) rs1423153631
NM_001144967.3(NEDD4L):c.1474C>T (p.His492Tyr)
NM_001144967.3(NEDD4L):c.1483A>G (p.Thr495Ala) rs1297218616
NM_001144967.3(NEDD4L):c.1488G>C (p.Gln496His)
NM_001144967.3(NEDD4L):c.151G>A (p.Val51Ile) rs1600177605
NM_001144967.3(NEDD4L):c.1521A>G (p.Ile507Met)
NM_001144967.3(NEDD4L):c.1523C>T (p.Ala508Val) rs573738976
NM_001144967.3(NEDD4L):c.1530C>G (p.Asn510Lys) rs199582650
NM_001144967.3(NEDD4L):c.1538C>T (p.Pro513Leu) rs2145242918
NM_001144967.3(NEDD4L):c.155C>T (p.Ala52Val)
NM_001144967.3(NEDD4L):c.1565C>T (p.Thr522Ile)
NM_001144967.3(NEDD4L):c.1567A>G (p.Thr523Ala) rs1373145711
NM_001144967.3(NEDD4L):c.1575+6G>A rs936846045
NM_001144967.3(NEDD4L):c.1578A>T (p.Glu526Asp)
NM_001144967.3(NEDD4L):c.1597C>G (p.Pro533Ala) rs2145557366
NM_001144967.3(NEDD4L):c.1607T>G (p.Met536Arg) rs369952868
NM_001144967.3(NEDD4L):c.1621T>C (p.Ser541Pro)
NM_001144967.3(NEDD4L):c.1653+5G>A
NM_001144967.3(NEDD4L):c.1654-1G>A
NM_001144967.3(NEDD4L):c.1660T>C (p.Trp554Arg) rs2145604815
NM_001144967.3(NEDD4L):c.1678T>G (p.Leu560Val)
NM_001144967.3(NEDD4L):c.1691C>G (p.Thr564Arg)
NM_001144967.3(NEDD4L):c.1691C>T (p.Thr564Met) rs769198983
NM_001144967.3(NEDD4L):c.1709A>G (p.Asn570Ser) rs2044794146
NM_001144967.3(NEDD4L):c.1715A>G (p.Lys572Arg) rs755945721
NM_001144967.3(NEDD4L):c.1767+1G>A rs2044797438
NM_001144967.3(NEDD4L):c.1768G>A (p.Ala590Thr)
NM_001144967.3(NEDD4L):c.1769C>T (p.Ala590Val)
NM_001144967.3(NEDD4L):c.1786G>C (p.Glu596Gln)
NM_001144967.3(NEDD4L):c.1820A>C (p.Lys607Thr) rs2045860030
NM_001144967.3(NEDD4L):c.1831C>T (p.Pro611Ser) rs1857940787
NM_001144967.3(NEDD4L):c.1834-3T>C
NM_001144967.3(NEDD4L):c.1850G>A (p.Arg617Lys) rs755715125
NM_001144967.3(NEDD4L):c.1910C>A (p.Ser637Tyr)
NM_001144967.3(NEDD4L):c.1919G>A (p.Arg640Lys)
NM_001144967.3(NEDD4L):c.191A>C (p.Lys64Thr) rs2148412041
NM_001144967.3(NEDD4L):c.195_197del (p.Ile66del)
NM_001144967.3(NEDD4L):c.1982G>A (p.Gly661Glu)
NM_001144967.3(NEDD4L):c.1991C>G (p.Ala664Gly)
NM_001144967.3(NEDD4L):c.2006T>C (p.Phe669Ser)
NM_001144967.3(NEDD4L):c.2044C>T (p.Leu682Phe) rs2046085665
NM_001144967.3(NEDD4L):c.2048T>G (p.Phe683Cys)
NM_001144967.3(NEDD4L):c.2063+1G>A
NM_001144967.3(NEDD4L):c.2093A>T (p.Asn698Ile)
NM_001144967.3(NEDD4L):c.2109T>A (p.Asn703Lys)
NM_001144967.3(NEDD4L):c.2112G>T (p.Glu704Asp)
NM_001144967.3(NEDD4L):c.2123C>T (p.Ser708Phe) rs2146159113
NM_001144967.3(NEDD4L):c.2126A>G (p.Tyr709Cys)
NM_001144967.3(NEDD4L):c.2215A>G (p.Met739Val) rs1172972866
NM_001144967.3(NEDD4L):c.2242G>A (p.Asp748Asn) rs2146249585
NM_001144967.3(NEDD4L):c.2244C>G (p.Asp748Glu) rs2046707609
NM_001144967.3(NEDD4L):c.2248G>C (p.Glu750Gln)
NM_001144967.3(NEDD4L):c.2303C>T (p.Pro768Leu)
NM_001144967.3(NEDD4L):c.2306C>T (p.Thr769Ile) rs2047124967
NM_001144967.3(NEDD4L):c.2320A>G (p.Met774Val)
NM_001144967.3(NEDD4L):c.2327G>T (p.Cys776Phe)
NM_001144967.3(NEDD4L):c.2330T>G (p.Ile777Arg) rs2047126755
NM_001144967.3(NEDD4L):c.2352+11G>A
NM_001144967.3(NEDD4L):c.2352+6T>C rs2146339745
NM_001144967.3(NEDD4L):c.2377A>G (p.Asn793Asp) rs2048579090
NM_001144967.3(NEDD4L):c.2393T>C (p.Met798Thr)
NM_001144967.3(NEDD4L):c.2401A>C (p.Asn801His)
NM_001144967.3(NEDD4L):c.243+3_243+6del rs1281410337
NM_001144967.3(NEDD4L):c.2448T>G (p.Phe816Leu)
NM_001144967.3(NEDD4L):c.2453A>T (p.Asn818Ile) rs2146788922
NM_001144967.3(NEDD4L):c.2547+1G>A rs2049195118
NM_001144967.3(NEDD4L):c.2548-13A>G
NM_001144967.3(NEDD4L):c.2560G>A (p.Gly854Ser) rs1185926634
NM_001144967.3(NEDD4L):c.2602A>G (p.Ile868Val)
NM_001144967.3(NEDD4L):c.2609A>G (p.Lys870Arg)
NM_001144967.3(NEDD4L):c.2621G>T (p.Cys874Phe) rs2049446731
NM_001144967.3(NEDD4L):c.2624_2625delinsAG (p.Pro875Gln) rs2049446994
NM_001144967.3(NEDD4L):c.264A>T (p.Arg88Ser)
NM_001144967.3(NEDD4L):c.2668A>C (p.Met890Leu)
NM_001144967.3(NEDD4L):c.2670_2671del (p.Met890fs)
NM_001144967.3(NEDD4L):c.2674G>C (p.Ala892Pro)
NM_001144967.3(NEDD4L):c.2780T>C (p.Ile927Thr) rs1468279486
NM_001144967.3(NEDD4L):c.2786A>G (p.Gln929Arg)
NM_001144967.3(NEDD4L):c.2798C>G (p.Pro933Arg) rs2049836298
NM_001144967.3(NEDD4L):c.2826-19C>G
NM_001144967.3(NEDD4L):c.2826-3C>T
NM_001144967.3(NEDD4L):c.2890del (p.Ala964fs) rs2050478920
NM_001144967.3(NEDD4L):c.356A>G (p.Asp119Gly) rs755584937
NM_001144967.3(NEDD4L):c.370C>G (p.Arg124Gly)
NM_001144967.3(NEDD4L):c.373C>A (p.Pro125Thr) rs2149481585
NM_001144967.3(NEDD4L):c.376T>C (p.Tyr126His)
NM_001144967.3(NEDD4L):c.386A>G (p.Lys129Arg)
NM_001144967.3(NEDD4L):c.397C>T (p.Leu133Phe)
NM_001144967.3(NEDD4L):c.410+3G>A
NM_001144967.3(NEDD4L):c.413A>G (p.His138Arg)
NM_001144967.3(NEDD4L):c.429G>T (p.Lys143Asn) rs754988137
NM_001144967.3(NEDD4L):c.439C>T (p.Arg147Ter) rs748006260
NM_001144967.3(NEDD4L):c.452C>T (p.Ala151Val) rs2149493068
NM_001144967.3(NEDD4L):c.457A>G (p.Met153Val)
NM_001144967.3(NEDD4L):c.459G>A (p.Met153Ile) rs1355436205
NM_001144967.3(NEDD4L):c.467dup (p.Asn156fs) rs1601236438
NM_001144967.3(NEDD4L):c.470G>C (p.Gly157Ala) rs2059011381
NM_001144967.3(NEDD4L):c.479A>T (p.Asp160Val)
NM_001144967.3(NEDD4L):c.486A>C (p.Glu162Asp)
NM_001144967.3(NEDD4L):c.490A>G (p.Ser164Gly) rs2059012277
NM_001144967.3(NEDD4L):c.491G>A (p.Ser164Asn) rs2149493416
NM_001144967.3(NEDD4L):c.49G>A (p.Gly17Arg) rs2146617418
NM_001144967.3(NEDD4L):c.508A>G (p.Met170Val) rs2059012885
NM_001144967.3(NEDD4L):c.513+3A>G
NM_001144967.3(NEDD4L):c.513+5G>A
NM_001144967.3(NEDD4L):c.523G>C (p.Glu175Gln) rs2144402875
NM_001144967.3(NEDD4L):c.569T>A (p.Leu190His) rs1167552515
NM_001144967.3(NEDD4L):c.572CTC[3] (p.Pro194del) rs747010088
NM_001144967.3(NEDD4L):c.572CTC[5] (p.Pro194dup) rs747010088
NM_001144967.3(NEDD4L):c.574C>T (p.Pro192Ser) rs1204697883
NM_001144967.3(NEDD4L):c.577C>A (p.Pro193Thr)
NM_001144967.3(NEDD4L):c.607G>C (p.Val203Leu) rs1601261633
NM_001144967.3(NEDD4L):c.613A>G (p.Asn205Asp) rs2144408422
NM_001144967.3(NEDD4L):c.638A>G (p.Asn213Ser)
NM_001144967.3(NEDD4L):c.649C>T (p.Arg217Trp) rs2144410052
NM_001144967.3(NEDD4L):c.667A>G (p.Arg223Gly)
NM_001144967.3(NEDD4L):c.669A>T (p.Arg223Ser)
NM_001144967.3(NEDD4L):c.673A>G (p.Ser225Gly) rs1243405379
NM_001144967.3(NEDD4L):c.682G>A (p.Asp228Asn)
NM_001144967.3(NEDD4L):c.692C>T (p.Ser231Leu)
NM_001144967.3(NEDD4L):c.739C>T (p.Arg247Trp)
NM_001144967.3(NEDD4L):c.740G>T (p.Arg247Leu) rs747072217
NM_001144967.3(NEDD4L):c.754C>T (p.Arg252Cys) rs2059568312
NM_001144967.3(NEDD4L):c.766A>G (p.Ser256Gly) rs2059568719
NM_001144967.3(NEDD4L):c.767G>A (p.Ser256Asn) rs2059568831
NM_001144967.3(NEDD4L):c.778GAGCCC[3] (p.Pro263_Ser264insGluPro)
NM_001144967.3(NEDD4L):c.786G>C (p.Glu262Asp)
NM_001144967.3(NEDD4L):c.786G>T (p.Glu262Asp)
NM_001144967.3(NEDD4L):c.808C>T (p.Pro270Ser)
NM_001144967.3(NEDD4L):c.813G>A (p.Glu271=)
NM_001144967.3(NEDD4L):c.826A>G (p.Ile276Val) rs2144696677
NM_001144967.3(NEDD4L):c.826A>T (p.Ile276Phe) rs2144696677
NM_001144967.3(NEDD4L):c.83C>T (p.Ser28Phe)
NM_001144967.3(NEDD4L):c.846C>G (p.Ile282Met) rs1416521342
NM_001144967.3(NEDD4L):c.847G>C (p.Ala283Pro) rs1408580789
NM_001144967.3(NEDD4L):c.857C>T (p.Ser286Phe)
NM_001144967.3(NEDD4L):c.868G>A (p.Ala290Thr) rs748474298
NM_001144967.3(NEDD4L):c.869C>T (p.Ala290Val)
NM_001144967.3(NEDD4L):c.878C>G (p.Pro293Arg) rs760793783
NM_001144967.3(NEDD4L):c.881C>G (p.Pro294Arg)
NM_001144967.3(NEDD4L):c.884C>A (p.Pro295Gln) rs147209028
NM_001144967.3(NEDD4L):c.911C>T (p.Pro304Leu) rs2059730890
NM_001144967.3(NEDD4L):c.934A>G (p.Ser312Gly)
NM_001144967.3(NEDD4L):c.951C>G (p.Ile317Met) rs2144702525
NM_001144967.3(NEDD4L):c.952A>G (p.Thr318Ala)
NM_001144967.3(NEDD4L):c.961T>G (p.Ser321Ala)
NM_001144967.3(NEDD4L):c.964A>G (p.Asn322Asp)
NM_001144967.3(NEDD4L):c.968G>C (p.Gly323Ala) rs991844120
NM_001144967.3(NEDD4L):c.974A>C (p.Gln325Pro) rs2144703708
NM_001144967.3(NEDD4L):c.976T>A (p.Phe326Ile)
NM_001144967.3(NEDD4L):c.980G>T (p.Ser327Ile)
NM_001144967.3(NEDD4L):c.982_983delinsAT (p.Ser328Ile)
NM_001144967.3(NEDD4L):c.991-19T>G
NM_001144967.3(NEDD4L):c.991-3C>T

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