ClinVar Miner

List of variants in gene NLRP7 studied for Hydatidiform mole, recurrent, 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 110
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127255.2(NLRP7):c.1932-146C>T rs775879 0.70918
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.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.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.-40+36C>T rs7248636 0.08946
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.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.1931+176G>T rs104895533 0.03530
NM_001127255.2(NLRP7):c.1532A>G (p.Lys511Arg) rs61743949 0.03179
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.467G>A (p.Arg156Gln) rs61746625 0.00759
NM_001127255.2(NLRP7):c.-39-792C>T rs143652352 0.00423
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.930G>T (p.Gln310His) rs145973556 0.00203
NM_001127255.2(NLRP7):c.1169G>A (p.Arg390His) rs141694326 0.00171
NM_001127255.2(NLRP7):c.1082C>T (p.Ser361Leu) rs143169084 0.00126
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.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_001127255.2(NLRP7):c.1168C>T (p.Arg390Cys) rs543019983 0.00028
NM_001127255.2(NLRP7):c.1548T>C (p.Ile516=) rs367965993 0.00023
NM_001127255.2(NLRP7):c.352+230C>T rs104895527 0.00017
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_001127255.2(NLRP7):c.977A>T (p.Glu326Val) rs146193856 0.00010
NM_001127255.2(NLRP7):c.1191C>T (p.Phe397=) rs777313176 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.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.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.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.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.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_206828.4(NLRP7):c.-49C>T rs886054634 0.00001
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.1138G>C (p.Gly380Arg) rs104895557
NM_001127255.2(NLRP7):c.1149G>A (p.Pro383=) rs752268912
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.226G>C (p.Glu76Gln) rs759370809
NM_001127255.2(NLRP7):c.277+1G>A
NM_001127255.2(NLRP7):c.295G>T (p.Glu99Ter) rs104895507
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.