ClinVar Miner

List of variants studied for Hydatidiform mole, recurrent, 1 by Unité médicale des maladies autoinflammatoires, CHRU Montpellier

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Total variants: 111
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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.2811-1214C>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.2811-695T>C rs269939 0.54840
NM_001127255.2(NLRP7):c.2811-402C>T rs617543 0.54838
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.-39-16C>T rs775886 0.38318
NM_001127255.2(NLRP7):c.2811-678C>A rs269938 0.38049
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.-40+21C>T rs703473 0.11531
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.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.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.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.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.-39-792C>T rs143652352 0.00423
NM_001127255.2(NLRP7):c.2472-181G>A rs12461151 0.00395
NM_001127255.2(NLRP7):c.701T>C (p.Leu234Ser) rs61732584 0.00321
NM_001127255.2(NLRP7):c.574A>C (p.Met192Leu) rs104895529 0.00216
NM_001127255.2(NLRP7):c.2094C>T (p.His698=) rs104895524 0.00196
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) rs77072552 0.00141
NM_001127255.2(NLRP7):c.2156C>T (p.Ala719Val) rs104895526 0.00101
NM_001127255.2(NLRP7):c.1302C>T (p.Asp434=) rs104895545 0.00083
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) rs104895503 0.00048
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_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp) rs104895506 0.00026
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.2146C>G (p.Pro716Ala) rs104895550 0.00011
NM_001127255.2(NLRP7):c.2248C>G (p.Leu750Val) rs104895512 0.00009
NM_001127255.2(NLRP7):c.-39-90G>C rs376266895 0.00007
NM_001127255.2(NLRP7):c.939_952dup (p.Tyr318Cysfs) rs104895547 0.00007
NM_001127255.2(NLRP7):c.2471+1G>A rs104895505 0.00005
NM_001127255.2(NLRP7):c.1193T>G (p.Leu398Arg) rs104895548 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.1294C>T (p.Arg432Ter) rs104895530 0.00001
NM_001127255.2(NLRP7):c.2161C>T (p.Arg721Trp) rs104895525 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.352+231G>A rs104895528 0.00001
NM_001127255.2(NLRP7):c.-39-386_2129+266dup
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.1455dup (p.Glu486Glyfs) rs104895559
NM_001127255.2(NLRP7):c.1708G>T (p.Glu570Ter) rs104895544
NM_001127255.2(NLRP7):c.182delC (p.Ser62Profs) rs104895546
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.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.2282G>A (p.Cys761Tyr) rs104895552
NM_001127255.2(NLRP7):c.2334G>A (p.Trp778Ter) rs104895558
NM_001127255.2(NLRP7):c.2642+114G>A rs104895562
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.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.915A>C (p.Ala305=) rs104895560
NM_001127255.2(NLRP7):c.985A>C (p.Arg329=) rs104895511

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