ClinVar Miner

List of variants in gene NCR1, NLRP7 studied for complete hydatidiform mole

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
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.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.2811-678C>A rs269938 0.38049
NM_001127255.2(NLRP7):c.2300+128C>T rs7359934 0.16941
NM_001127255.2(NLRP7):c.2471+81_2471+82insG rs104895521 0.09063
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.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.2129+6T>C rs77313457 0.03542
NM_001127255.2(NLRP7):c.2129+399G>A rs8101049 0.03535
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.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.2811-28C>T rs116109745 0.00902
NM_001127255.2(NLRP7):c.2811-559A>G rs79711969 0.00871
NM_206828.4(NLRP7):c.*5C>T rs115724298 0.00605
NM_001127255.2(NLRP7):c.2472-181G>A rs12461151 0.00395
NM_001127255.2(NLRP7):c.2721C>T (p.Asn907=) rs61750468 0.00215
NM_001127255.2(NLRP7):c.2094C>T (p.His698=) rs104895524 0.00196
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.2156C>T (p.Ala719Val) rs104895526 0.00101
NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp) rs104895506 0.00067
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) rs104895503 0.00048
NM_206828.4(NLRP7):c.*44G>A rs201167539 0.00032
NM_001127255.2(NLRP7):c.2788A>T (p.Asn930Tyr) rs201379032 0.00027
NM_001127255.2(NLRP7):c.3083C>T (p.Thr1028Met) rs144955489 0.00022
NM_001127255.2(NLRP7):c.2300+47A>G rs104895561 0.00016
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.2248C>G (p.Leu750Val) rs104895512 0.00009
NM_001127255.2(NLRP7):c.2420T>G (p.Met807Arg) rs371671539 0.00008
NM_001127255.2(NLRP7):c.2154C>T (p.Thr718=) rs372489727 0.00007
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.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.2130-2A>G rs764734665 0.00002
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_206828.4(NLRP7):c.*183G>A rs886054631 0.00001
NM_001127255.2(NLRP7):c.-39-386_2129+266dup
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.2204A>G (p.His735Arg) rs2068925515
NM_001127255.2(NLRP7):c.2250G>C (p.Leu750=) rs1038422379
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.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.2981+29_2981+32del rs104895515
NM_001127255.2(NLRP7):c.2981+33T>G rs104895542

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