ClinVar Miner

List of variants studied for trophoblastic neoplasm

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_001127255.2(NLRP7):c.1932-146C>T rs775879 0.70918
NM_001127255.2(NLRP7):c.2129+451C>T rs775877 0.70396
NM_001127255.2(NLRP7):c.2643-1390T>C rs269955 0.69176
NM_001127255.2(NLRP7):c.2643-364G>T rs269954 0.60827
NM_001127255.2(NLRP7):c.2811-394G>T rs534059 0.55529
NM_001127255.2(NLRP7):c.2811-23A>G rs269933 0.54964
NM_001127255.2(NLRP7):c.2811-1214C>T rs269940 0.54962
NM_001127255.2(NLRP7):c.2811-496T>C rs175092 0.54936
NM_001127255.2(NLRP7):c.2811-228T>C rs269935 0.54932
NM_001127255.2(NLRP7):c.2810+224G>A rs269948 0.54911
NM_001127255.2(NLRP7):c.2811-329A>G rs269937 0.54907
NM_001127255.2(NLRP7):c.2981+123T>C rs269932 0.54888
NM_001127255.2(NLRP7):c.2775A>G (p.Ala925=) rs269950 0.54861
NM_001127255.2(NLRP7):c.2811-695T>C rs269939 0.54840
NM_001127255.2(NLRP7):c.2811-402C>T rs617543 0.54838
NM_001127255.2(NLRP7):c.2682T>C (p.Tyr894=) rs269951 0.54828
NM_001127255.2(NLRP7):c.2811-399A>G rs35932435 0.54822
NM_001127255.2(NLRP7):c.2981+142C>A rs269931 0.54591
NM_001127255.2(NLRP7):c.2810+126T>C rs647844 0.54561
NM_001127255.2(NLRP7):c.2810+123G>A rs647845 0.54545
NM_001127255.2(NLRP7):c.2643-246T>G rs269952 0.53638
NM_001127255.2(NLRP7):c.2129+313C>G rs775878 0.44928
NM_001127255.2(NLRP7):c.390G>A (p.Gln130=) rs775883 0.39585
NM_001127255.2(NLRP7):c.-39-16C>T rs775886 0.38318
NM_001127255.2(NLRP7):c.2811-678C>A rs269938 0.38049
NM_001127255.2(NLRP7):c.955G>A (p.Val319Ile) rs775882 0.29687
NM_001127255.2(NLRP7):c.-39-300C>T rs10421217 0.20686
NM_001127255.2(NLRP7):c.-39-393G>A rs10421098 0.17449
NM_001127255.2(NLRP7):c.2300+128C>T rs7359934 0.16941
NM_001127255.2(NLRP7):c.1460G>A (p.Gly487Glu) rs775881 0.13795
NM_001127255.2(NLRP7):c.-40+21C>T rs703473 0.11531
NM_001127255.2(NLRP7):c.1441G>A (p.Ala481Thr) rs61747414 0.11267
NM_001127255.2(NLRP7):c.2471+81_2471+82insG rs104895521 0.09063
NM_001127255.2(NLRP7):c.-40+36C>T rs7248636 0.08946
NM_001127255.2(NLRP7):c.2300+331A>G rs7254566 0.07187
NM_001127255.2(NLRP7):c.2811-178G>A rs12979871 0.06777
NM_001127255.2(NLRP7):c.2811-25G>C rs775870 0.06249
NM_001127255.2(NLRP7):c.2811-523C>T rs775872 0.06083
NM_001127255.2(NLRP7):c.-39-427T>C rs104895519 0.06026
NM_001127255.2(NLRP7):c.353-216C>G rs8106278 0.05659
NM_001127255.2(NLRP7):c.1725G>T (p.Leu575=) rs73055288 0.03784
NM_001127255.2(NLRP7):c.353-178A>G rs8106927 0.03622
NM_001127255.2(NLRP7):c.2129+432T>C rs104895537 0.03612
NM_001127255.2(NLRP7):c.2300+322C>T rs77448328 0.03561
NM_001127255.2(NLRP7):c.2130-304C>G rs104895539 0.03558
NM_001127255.2(NLRP7):c.2129+38G>C rs75675646 0.03550
NM_001127255.2(NLRP7):c.1931+226C>G rs104895534 0.03546
NM_001127255.2(NLRP7):c.1932-103G>C rs79420921 0.03545
NM_001127255.2(NLRP7):c.2129+6T>C rs77313457 0.03542
NM_001127255.2(NLRP7):c.1931+110T>C rs11879109 0.03540
NM_001127255.2(NLRP7):c.1932-57T>C rs78894374 0.03538
NM_001127255.2(NLRP7):c.2129+399G>A rs8101049 0.03535
NM_001127255.2(NLRP7):c.1931+176G>T rs104895533 0.03530
NM_001127255.2(NLRP7):c.2129+214C>T rs104895536 0.03470
NM_001127255.2(NLRP7):c.2130-718G>A rs104895538 0.03465
NM_001127255.2(NLRP7):c.1532A>G (p.Lys511Arg) rs61743949 0.03179
NM_001127255.2(NLRP7):c.2706C>T (p.Ala902=) rs61746780 0.02585
NM_206828.4(NLRP7):c.*180G>C rs775865 0.02454
NM_001127255.2(NLRP7):c.3082A>G (p.Thr1028Ala) rs7256020 0.02291
NM_001127255.2(NLRP7):c.2811-135C>T rs775871 0.02226
NM_001127255.2(NLRP7):c.2810+57T>C rs104895518 0.02219
NM_001127255.2(NLRP7):c.2472-126A>G rs7245955 0.02210
NM_001127255.2(NLRP7):c.2325G>A (p.Pro775=) rs61744426 0.01696
NM_001127255.2(NLRP7):c.603C>T (p.Ser201=) rs7256285 0.01430
NM_001127255.2(NLRP7):c.929A>G (p.Gln310Arg) rs77812009 0.01325
NM_001127255.2(NLRP7):c.353-111C>T rs62124617 0.01168
NM_001127255.2(NLRP7):c.2811-28C>T rs116109745 0.00902
NM_001127255.2(NLRP7):c.2811-559A>G rs79711969 0.00871
NM_001127255.2(NLRP7):c.467G>A (p.Arg156Gln) rs61746625 0.00759
NM_206828.4(NLRP7):c.*5C>T rs115724298 0.00605
NM_001127255.2(NLRP7):c.-39-792C>T rs143652352 0.00423
NM_001127255.2(NLRP7):c.2472-181G>A rs12461151 0.00395
NM_206828.4(NLRP7):c.-9C>T rs184816368 0.00389
NM_001127255.2(NLRP7):c.701T>C (p.Leu234Ser) rs61732584 0.00321
NM_001127255.2(NLRP7):c.352+13G>A rs115894800 0.00301
NM_001127255.2(NLRP7):c.1718G>A (p.Gly573Asp) rs149696586 0.00216
NM_001127255.2(NLRP7):c.574A>C (p.Met192Leu) rs104895529 0.00216
NM_001127255.2(NLRP7):c.2721C>T (p.Asn907=) rs61750468 0.00215
NM_001127255.2(NLRP7):c.930G>T (p.Gln310His) rs145973556 0.00203
NM_001127255.2(NLRP7):c.2094C>T (p.His698=) rs104895524 0.00196
NM_001127255.2(NLRP7):c.1169G>A (p.Arg390His) rs141694326 0.00171
NM_001127255.2(NLRP7):c.2383C>T (p.Arg795Cys) rs61742869 0.00143
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) rs77072552 0.00141
NM_001127255.2(NLRP7):c.1082C>T (p.Ser361Leu) rs143169084 0.00126
NM_001127255.2(NLRP7):c.2156C>T (p.Ala719Val) rs104895526 0.00101
NM_001127255.2(NLRP7):c.835G>T (p.Val279Leu) rs144378653 0.00101
NM_001127255.2(NLRP7):c.1302C>T (p.Asp434=) rs104895545 0.00083
NM_001127255.2(NLRP7):c.298A>G (p.Ile100Val) rs150677758 0.00071
NM_001127255.2(NLRP7):c.1257C>G (p.Ala419=) rs151120858 0.00068
NM_001127255.2(NLRP7):c.66A>G (p.Leu22=) rs149175257 0.00055
NM_001127255.2(NLRP7):c.749T>G (p.Phe250Cys) rs78096121 0.00051
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) rs104895503 0.00048
NM_001127255.2(NLRP7):c.278-12A>C rs201164207 0.00045
NM_001127255.2(NLRP7):c.1762G>A (p.Val588Met) rs146872991 0.00043
NM_001127255.2(NLRP7):c.1196G>A (p.Cys399Tyr) rs104895510 0.00034
NM_001127255.2(NLRP7):c.251G>A (p.Cys84Tyr) rs104895509 0.00032
NM_206828.4(NLRP7):c.*44G>A rs201167539 0.00032
NM_001127255.2(NLRP7):c.1168C>T (p.Arg390Cys) rs543019983 0.00028
NM_001127255.2(NLRP7):c.2788A>T (p.Asn930Tyr) rs201379032 0.00027
NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp) rs104895506 0.00026
NM_001127255.2(NLRP7):c.1548T>C (p.Ile516=) rs367965993 0.00023
NM_001127255.2(NLRP7):c.3083C>T (p.Thr1028Met) rs144955489 0.00022
NM_001127255.2(NLRP7):c.352+230C>T rs104895527 0.00017
NM_001127255.2(NLRP7):c.2300+47A>G rs104895561 0.00016
NM_001127255.2(NLRP7):c.719G>A (p.Ser240Asn) rs199475824 0.00014
NM_001127255.2(NLRP7):c.809G>A (p.Cys270Tyr) rs144609808 0.00014
NM_206828.4(NLRP7):c.*20C>T rs184844567 0.00014
NM_001127255.2(NLRP7):c.2146C>G (p.Pro716Ala) rs104895550 0.00011
NM_001127255.2(NLRP7):c.2750G>A (p.Arg917His) rs371741023 0.00011
NM_001127255.2(NLRP7):c.977A>T (p.Glu326Val) rs146193856 0.00010
NM_001127255.2(NLRP7):c.2248C>G (p.Leu750Val) rs104895512 0.00009
NM_001127255.2(NLRP7):c.1191C>T (p.Phe397=) rs777313176 0.00008
NM_001127255.2(NLRP7):c.2420T>G (p.Met807Arg) rs371671539 0.00008
NM_001127255.2(NLRP7):c.555C>T (p.Thr185=) rs754428027 0.00008
NM_001127255.2(NLRP7):c.-39-90G>C rs376266895 0.00007
NM_001127255.2(NLRP7):c.1569C>T (p.Phe523=) rs200362946 0.00007
NM_001127255.2(NLRP7):c.2154C>T (p.Thr718=) rs372489727 0.00007
NM_001127255.2(NLRP7):c.681C>A (p.Ile227=) rs201456445 0.00007
NM_001127255.2(NLRP7):c.939_952dup (p.Tyr318Cysfs) rs104895547 0.00007
NM_001127255.2(NLRP7):c.531C>T (p.His177=) rs746150420 0.00006
NM_001127255.2(NLRP7):c.2471+1G>A rs104895505 0.00005
NM_001127255.2(NLRP7):c.2226C>T (p.Ile742=) rs571211521 0.00004
NM_001127255.2(NLRP7):c.99C>T (p.Pro33=) rs145372368 0.00004
NM_001127255.2(NLRP7):c.1111A>G (p.Thr371Ala) rs748263335 0.00003
NM_001127255.2(NLRP7):c.1113G>A (p.Thr371=) rs531055840 0.00003
NM_001127255.2(NLRP7):c.1193T>G (p.Leu398Arg) rs104895548 0.00003
NM_001127255.2(NLRP7):c.1299G>C (p.Glu433Asp) rs200275852 0.00003
NM_001127255.2(NLRP7):c.1605G>A (p.Glu535=) rs192107267 0.00003
NM_001127255.2(NLRP7):c.1931+43C>T rs104895532 0.00003
NM_001127255.2(NLRP7):c.2078G>A (p.Arg693Gln) rs104895502 0.00003
NM_001127255.2(NLRP7):c.2101C>T (p.Arg701Cys) rs104895535 0.00003
NM_001127255.2(NLRP7):c.3031G>C (p.Val1011Leu) rs540923289 0.00003
NM_001127255.2(NLRP7):c.3076G>A (p.Gly1026Arg) rs749456317 0.00003
NM_001127255.2(NLRP7):c.9G>A (p.Ser3=) rs199475821 0.00003
NM_001127255.2(NLRP7):c.1614T>A (p.Phe538Leu) rs200193926 0.00002
NM_001127255.2(NLRP7):c.184T>G (p.Ser62Ala) rs1391172061 0.00002
NM_001127255.2(NLRP7):c.198G>C (p.Trp66Cys) rs757711002 0.00002
NM_001127255.2(NLRP7):c.2130-2A>G rs764734665 0.00002
NM_001017361.3(KHDC3L):c.1A>G (p.Met1Val) rs606231235 0.00001
NM_001017361.3(KHDC3L):c.334C>T (p.Gln112Ter) rs745776920 0.00001
NM_001127255.2(NLRP7):c.1187G>A (p.Arg396His) rs375095148 0.00001
NM_001127255.2(NLRP7):c.1294C>T (p.Arg432Ter) rs104895530 0.00001
NM_001127255.2(NLRP7):c.1488C>T (p.Asp496=) rs775944680 0.00001
NM_001127255.2(NLRP7):c.1501C>G (p.Gln501Glu) rs1324076683 0.00001
NM_001127255.2(NLRP7):c.1514C>T (p.Ser505Phe) rs868391337 0.00001
NM_001127255.2(NLRP7):c.2161C>T (p.Arg721Trp) rs104895525 0.00001
NM_001127255.2(NLRP7):c.2361C>T (p.Ala787=) rs773367585 0.00001
NM_001127255.2(NLRP7):c.2373G>A (p.Leu791=) rs768473188 0.00001
NM_001127255.2(NLRP7):c.2402T>C (p.Leu801Pro) rs2068817265 0.00001
NM_001127255.2(NLRP7):c.2810+2T>G rs104895513 0.00001
NM_001127255.2(NLRP7):c.2811-37C>T rs104895522 0.00001
NM_001127255.2(NLRP7):c.3068A>G (p.Asn1023Ser) rs1443910848 0.00001
NM_001127255.2(NLRP7):c.352+231G>A rs104895528 0.00001
NM_001127255.2(NLRP7):c.445G>A (p.Asp149Asn) rs756978762 0.00001
NM_001127255.2(NLRP7):c.519G>A (p.Thr173=) rs201414484 0.00001
NM_001127255.2(NLRP7):c.790G>A (p.Ala264Thr) rs530968592 0.00001
NM_001302084.2(TOP6BL):c.1006T>C (p.Ser336Pro) rs1449401018 0.00001
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter) rs749779829 0.00001
NM_206828.4(NLRP7):c.*183G>A rs886054631 0.00001
NM_206828.4(NLRP7):c.-49C>T rs886054634 0.00001
NC_000019.10:g.54947788G>A rs9941465
NM_001017361.3(KHDC3L):c.299_302del (p.Ile100fs) rs606231286
NM_001017361.3(KHDC3L):c.322_325del (p.Asp108fs) rs606231234
NM_001017361.3(KHDC3L):c.3G>T (p.Met1Ile) rs606231233
NM_001017361.3(KHDC3L):c.602C>G (p.Ala201Gly) rs561930
NM_001127255.2(NLRP7):c.-39-386_2129+266dup
NM_001127255.2(NLRP7):c.-39-3C>T rs772074527
NM_001127255.2(NLRP7):c.1104T>C (p.Ile368=) rs1654636
NM_001127255.2(NLRP7):c.1104T>G (p.Ile368Met) rs1654636
NM_001127255.2(NLRP7):c.1137G>A (p.Lys379=) rs10418277
NM_001127255.2(NLRP7):c.1137G>C (p.Lys379Asn) rs10418277
NM_001127255.2(NLRP7):c.1138G>C (p.Gly380Arg) rs104895557
NM_001127255.2(NLRP7):c.1149G>A (p.Pro383=) rs752268912
NM_001127255.2(NLRP7):c.1224_1232delGCGGGGCGCinsT (p.Arg409Alafs) rs2069116238
NM_001127255.2(NLRP7):c.1296A>C (p.Arg432=) rs753864022
NM_001127255.2(NLRP7):c.1336C>T (p.Arg446Cys) rs1377290637
NM_001127255.2(NLRP7):c.1455dup (p.Glu486Glyfs) rs104895559
NM_001127255.2(NLRP7):c.1461_1463GGA[3] (p.Glu488_Asp489insGlu) rs886054633
NM_001127255.2(NLRP7):c.1491C>T (p.Ile497=) rs775880
NM_001127255.2(NLRP7):c.1708G>T (p.Glu570Ter) rs104895544
NM_001127255.2(NLRP7):c.1767C>T (p.Ala589=) rs61746602
NM_001127255.2(NLRP7):c.1823C>T (p.Ser608Phe) rs199475830
NM_001127255.2(NLRP7):c.182delC (p.Ser62Profs) rs104895546
NM_001127255.2(NLRP7):c.1857_1858delAC (p.Lys619Asnfs) rs2069070395
NM_001127255.2(NLRP7):c.1931+18A>T rs104895531
NM_001127255.2(NLRP7):c.1932-178del rs104895520
NM_001127255.2(NLRP7):c.1951C>T (p.Pro651Ser) rs104895549
NM_001127255.2(NLRP7):c.1970A>T (p.Asp657Val) rs104895508
NM_001127255.2(NLRP7):c.2002T>C (p.Cys668Arg)
NM_001127255.2(NLRP7):c.2018C>G (p.Ser673Ter) rs104895555
NM_001127255.2(NLRP7):c.2030delT (p.Leu677Profs) rs104895554
NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro) rs104895502
NM_001127255.2(NLRP7):c.2144delC (p.Pro716Leufs) rs104895551
NM_001127255.2(NLRP7):c.2165A>G (p.Asp722Gly) rs104895540
NM_001127255.2(NLRP7):c.2177C>T (p.Ala726Val)
NM_001127255.2(NLRP7):c.2204A>G (p.His735Arg) rs2068925515
NM_001127255.2(NLRP7):c.2218_2224del (p.Gly740fs)
NM_001127255.2(NLRP7):c.2250G>C (p.Leu750=) rs1038422379
NM_001127255.2(NLRP7):c.226G>C (p.Glu76Gln) rs759370809
NM_001127255.2(NLRP7):c.2282G>A (p.Cys761Tyr) rs104895552
NM_001127255.2(NLRP7):c.2320_2321insT (p.Thr774Ilefs) rs2068825510
NM_001127255.2(NLRP7):c.2334G>A (p.Trp778Ter) rs104895558
NM_001127255.2(NLRP7):c.2384G>A (p.Arg795His) rs200965650
NM_001127255.2(NLRP7):c.2504G>T (p.Cys835Phe) rs2068771944
NM_001127255.2(NLRP7):c.2548C>T (p.His850Tyr) rs886054632
NM_001127255.2(NLRP7):c.2585G>A (p.Gly862Glu)
NM_001127255.2(NLRP7):c.2642+114G>A rs104895562
NM_001127255.2(NLRP7):c.2642+17TG[6] rs112477133
NM_001127255.2(NLRP7):c.2695C>T (p.Leu899Phe) rs2068636165
NM_001127255.2(NLRP7):c.277+1G>A
NM_001127255.2(NLRP7):c.2810+171T>A rs104895516
NM_001127255.2(NLRP7):c.2810+26C>T rs104895541
NM_001127255.2(NLRP7):c.2811-312C>A rs269936
NM_001127255.2(NLRP7):c.2811-34T>G rs104895517
NM_001127255.2(NLRP7):c.2891T>C (p.Leu964Pro) rs104895523
NM_001127255.2(NLRP7):c.295G>T (p.Glu99Ter) rs104895507
NM_001127255.2(NLRP7):c.2981+29_2981+32del rs104895515
NM_001127255.2(NLRP7):c.2981+33T>G rs104895542
NM_001127255.2(NLRP7):c.2982-28del rs34438464
NM_001127255.2(NLRP7):c.336G>C (p.Ser112=) rs766338217
NM_001127255.2(NLRP7):c.336dup (p.Glu113Glyfs) rs104895553
NM_001127255.2(NLRP7):c.346A>T (p.Lys116Ter) rs104895556
NM_001127255.2(NLRP7):c.352+1G>A rs104895504
NM_001127255.2(NLRP7):c.361G>A (p.Glu121Lys) rs2069175044
NM_001127255.2(NLRP7):c.528G>A (p.Leu176=) rs1268111993
NM_001127255.2(NLRP7):c.637A>G (p.Lys213Glu)
NM_001127255.2(NLRP7):c.750C>A (p.Phe250Leu) rs140816006
NM_001127255.2(NLRP7):c.915A>C (p.Ala305=) rs104895560
NM_001127255.2(NLRP7):c.931C>A (p.Leu311Ile) rs79513034
NM_001127255.2(NLRP7):c.985A>C (p.Arg329=) rs104895511
NM_001302084.2(TOP6BL):c.1273_1274del (p.Lys425fs)
NM_001302084.2(TOP6BL):c.285dup (p.Glu96Ter) rs779402951
NM_152513.4(MEI1):c.1196+1G>A rs1569203272
NM_152513.4(MEI1):c.186G>C (p.Lys62Asn)
NM_152513.4(MEI1):c.2206del (p.Val736fs) rs759915989
NM_152513.4(MEI1):c.2647C>T (p.Arg883Ter)
NM_152513.4(MEI1):c.3772G>T (p.Asp1258Tyr)
NM_152513.4(MEI1):c.567C>A (p.Tyr189Ter)
NM_152513.4(MEI1):c.868CTC[1] (p.Leu291del)

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