ClinVar Miner

List of variants studied for complete hydatidiform mole by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_001127255.2(NLRP7):c.2775A>G (p.Ala925=) rs269950 0.54861
NM_001127255.2(NLRP7):c.2682T>C (p.Tyr894=) rs269951 0.54828
NM_001127255.2(NLRP7):c.390G>A (p.Gln130=) rs775883 0.39585
NM_001127255.2(NLRP7):c.955G>A (p.Val319Ile) rs775882 0.29687
NM_001127255.2(NLRP7):c.1460G>A (p.Gly487Glu) rs775881 0.13795
NM_001127255.2(NLRP7):c.1441G>A (p.Ala481Thr) rs61747414 0.11267
NM_001127255.2(NLRP7):c.1725G>T (p.Leu575=) rs73055288 0.03784
NM_001127255.2(NLRP7):c.2129+6T>C rs77313457 0.03542
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.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.467G>A (p.Arg156Gln) rs61746625 0.00759
NM_206828.4(NLRP7):c.*5C>T rs115724298 0.00605
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.1257C>G (p.Ala419=) rs151120858 0.00068
NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp) rs104895506 0.00067
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_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.1548T>C (p.Ile516=) rs367965993 0.00023
NM_001127255.2(NLRP7):c.3083C>T (p.Thr1028Met) rs144955489 0.00022
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.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.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.531C>T (p.His177=) rs746150420 0.00006
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.1299G>C (p.Glu433Asp) rs200275852 0.00003
NM_001127255.2(NLRP7):c.1605G>A (p.Glu535=) rs192107267 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_001127255.2(NLRP7):c.1187G>A (p.Arg396His) rs375095148 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.2361C>T (p.Ala787=) rs773367585 0.00001
NM_001127255.2(NLRP7):c.2373G>A (p.Leu791=) rs768473188 0.00001
NM_001127255.2(NLRP7):c.3068A>G (p.Asn1023Ser) rs1443910848 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.*183G>A rs886054631 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.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.1296A>C (p.Arg432=) rs753864022
NM_001127255.2(NLRP7):c.1336C>T (p.Arg446Cys) rs1377290637
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.1767C>T (p.Ala589=) rs61746602
NM_001127255.2(NLRP7):c.1823C>T (p.Ser608Phe) rs199475830
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.226G>C (p.Glu76Gln) rs759370809
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.336G>C (p.Ser112=) rs766338217
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.750C>A (p.Phe250Leu) rs140816006
NM_001127255.2(NLRP7):c.931C>A (p.Leu311Ile) rs79513034

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