ClinVar Miner

List of variants studied for pregnancy disorder

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 654
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_001127255.2(NLRP7):c.1932-146C>T rs775879 0.70918
NM_000103.4(CYP19A1):c.*161T>G rs4646 0.70442
NM_001127255.2(NLRP7):c.2129+451C>T rs775877 0.70396
NM_001127255.2(NLRP7):c.2643-1390T>C rs269955 0.69176
NM_000369.5(TSHR):c.692+163A>G rs3783942 0.63598
NM_000369.5(TSHR):c.692+209C>A rs3783941 0.62312
NM_001127255.2(NLRP7):c.2643-364G>T rs269954 0.60827
NM_152709.5(STOX1):c.457T>C (p.Tyr153His) rs1341667 0.57159
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_000103.4(CYP19A1):c.*2258_*2259insA rs3217422 0.46134
NM_000103.4(CYP19A1):c.*1601G>A rs12148604 0.46111
NM_001127255.2(NLRP7):c.2129+313C>G rs775878 0.44928
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
NM_000103.4(CYP19A1):c.240A>G (p.Val80=) rs700518 0.39802
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_000545.8(HNF1A):c.*197G>T rs1169309 0.30438
NM_001127255.2(NLRP7):c.955G>A (p.Val319Ile) rs775882 0.29687
NM_000103.4(CYP19A1):c.*2170G>A rs2255192 0.24198
NM_000103.4(CYP19A1):c.*2467G>A rs934634 0.23681
NM_001127255.2(NLRP7):c.-39-300C>T rs10421217 0.20686
NM_001127255.2(NLRP7):c.-39-393G>A rs10421098 0.17449
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) rs10509305 0.17379
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_000103.4(CYP19A1):c.*2511G>A rs934633 0.09620
NM_001127255.2(NLRP7):c.2471+81_2471+82insG rs104895521 0.09063
NM_001127255.2(NLRP7):c.-40+36C>T rs7248636 0.08946
NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys) rs700519 0.07673
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_000369.5(TSHR):c.154C>A (p.Pro52Thr) rs2234919 0.04384
NM_000103.4(CYP19A1):c.-39+14659C>A rs28757082 0.03938
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_000103.4(CYP19A1):c.602C>T (p.Thr201Met) rs28757184 0.03319
NM_000103.4(CYP19A1):c.*2039G>T rs35636804 0.03201
NM_001127255.2(NLRP7):c.1532A>G (p.Lys511Arg) rs61743949 0.03179
NM_000103.4(CYP19A1):c.186C>T (p.His62=) rs60308277 0.03055
NM_001127255.2(NLRP7):c.2706C>T (p.Ala902=) rs61746780 0.02585
NM_206828.4(NLRP7):c.*180G>C rs775865 0.02454
NM_000103.4(CYP19A1):c.*1296T>C rs28757212 0.02370
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_000369.5(TSHR):c.692+49T>C rs28636074 0.01441
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_000901.5(NR3C2):c.2139T>C (p.Pro713=) rs151096115 0.00862
NM_001127255.2(NLRP7):c.467G>A (p.Arg156Gln) rs61746625 0.00759
NM_000103.4(CYP19A1):c.109T>C (p.Leu37=) rs58282176 0.00628
NM_000103.4(CYP19A1):c.42C>G (p.Thr14=) rs61203654 0.00627
NM_206828.4(NLRP7):c.*5C>T rs115724298 0.00605
NM_000103.4(CYP19A1):c.*1190C>T rs28757210 0.00584
NM_001127255.2(NLRP7):c.-39-792C>T rs143652352 0.00423
NM_000103.4(CYP19A1):c.*2632T>C rs28757213 0.00419
NM_000103.4(CYP19A1):c.*2723A>G rs2289104 0.00409
NM_001127255.2(NLRP7):c.2472-181G>A rs12461151 0.00395
NM_206828.4(NLRP7):c.-9C>T rs184816368 0.00389
NM_000103.4(CYP19A1):c.*543C>G rs28757209 0.00376
NM_000901.5(NR3C2):c.1791A>G (p.Ser597=) rs34905604 0.00366
NM_000103.4(CYP19A1):c.*280A>T rs77828415 0.00341
NM_001127255.2(NLRP7):c.701T>C (p.Leu234Ser) rs61732584 0.00321
NM_001127255.2(NLRP7):c.352+13G>A rs115894800 0.00301
NM_000901.5(NR3C2):c.1898-4T>C rs72653856 0.00297
NM_006587.4(CORIN):c.2047A>T (p.Ser683Cys) rs144722161 0.00222
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_000103.4(CYP19A1):c.963C>G (p.Leu321=) rs59359360 0.00160
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_000103.4(CYP19A1):c.451+8G>A rs28892004 0.00118
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_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) rs2236722 0.00092
NM_001127255.2(NLRP7):c.1302C>T (p.Asp434=) rs104895545 0.00083
NM_000603.5(NOS3):c.465C>G (p.Ala155=) rs200774720 0.00080
NM_000379.4(XDH):c.3647C>A (p.Pro1216His) rs143981573 0.00078
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_000103.4(CYP19A1):c.*1889A>T rs762427390 0.00067
NM_000103.4(CYP19A1):c.*2257A>G rs540900346 0.00067
NM_000103.4(CYP19A1):c.-39+14572C>T rs530192973 0.00058
NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg) rs533910472 0.00057
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_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000103.4(CYP19A1):c.475C>T (p.Arg159Cys) rs201842322 0.00047
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_000901.5(NR3C2):c.1398T>C (p.Tyr466=) rs5524 0.00031
NM_000103.4(CYP19A1):c.49G>A (p.Val17Met) rs200111039 0.00030
NM_000103.4(CYP19A1):c.*1069C>T rs527275486 0.00028
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_006587.4(CORIN):c.8dup (p.Ser4fs) rs199972616 0.00027
NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp) rs104895506 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_000103.4(CYP19A1):c.*125T>C rs781742620 0.00024
NM_000103.4(CYP19A1):c.*2536C>T rs140417660 0.00023
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_001127255.2(NLRP7):c.1548T>C (p.Ile516=) rs367965993 0.00023
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_001127255.2(NLRP7):c.3083C>T (p.Thr1028Met) rs144955489 0.00022
NM_000103.4(CYP19A1):c.639C>T (p.Ile213=) rs147160979 0.00021
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_000103.4(CYP19A1):c.*108A>G rs28757207 0.00019
NM_000103.4(CYP19A1):c.*2155T>C rs865821138 0.00019
NM_000103.4(CYP19A1):c.*2274A>G rs886051270 0.00019
NM_000103.4(CYP19A1):c.*1608C>T rs781782351 0.00018
NM_000103.4(CYP19A1):c.953T>C (p.Met318Thr) rs143839949 0.00017
NM_001127255.2(NLRP7):c.352+230C>T rs104895527 0.00017
NM_000103.4(CYP19A1):c.*858C>T rs555261840 0.00016
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn) rs143562020 0.00016
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_000103.4(CYP19A1):c.465C>T (p.Pro155=) rs146495071 0.00012
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_000103.4(CYP19A1):c.75C>T (p.Thr25=) rs745979108 0.00010
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_001127255.2(NLRP7):c.977A>T (p.Glu326Val) rs146193856 0.00010
NM_000103.4(CYP19A1):c.*460G>C rs28757208 0.00009
NM_000103.4(CYP19A1):c.1224C>T (p.Pro408=) rs2304461 0.00009
NM_000103.4(CYP19A1):c.467G>A (p.Gly156Asp) rs142652579 0.00009
NM_001127255.2(NLRP7):c.2248C>G (p.Leu750Val) rs104895512 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 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_000103.4(CYP19A1):c.-39+14646C>T rs931758970 0.00007
NM_000103.4(CYP19A1):c.24G>A (p.Pro8=) rs143386224 0.00007
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_000103.4(CYP19A1):c.*166T>A rs181721810 0.00006
NM_000103.4(CYP19A1):c.*9G>T rs373757519 0.00006
NM_000103.4(CYP19A1):c.1353C>T (p.Leu451=) rs774940170 0.00006
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=) rs139905959 0.00006
NM_001127255.2(NLRP7):c.531C>T (p.His177=) rs746150420 0.00006
NM_000103.4(CYP19A1):c.*747G>A rs866111735 0.00005
NM_000103.4(CYP19A1):c.-39+1G>A rs956997586 0.00005
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) rs375975652 0.00005
NM_000901.5(NR3C2):c.1172A>G (p.Gln391Arg) rs569010694 0.00005
NM_000901.5(NR3C2):c.1824T>C (p.Asp608=) rs557002204 0.00005
NM_001127255.2(NLRP7):c.2471+1G>A rs104895505 0.00005
NM_000103.4(CYP19A1):c.*2519T>C rs1234949259 0.00004
NM_000103.4(CYP19A1):c.1387T>C (p.Leu463=) rs377327265 0.00004
NM_000103.4(CYP19A1):c.1488C>T (p.Asn496=) rs374079882 0.00004
NM_000103.4(CYP19A1):c.823T>C (p.Cys275Arg) rs201118855 0.00004
NM_000103.4(CYP19A1):c.99C>A (p.Gly33=) rs779177368 0.00004
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) rs780018604 0.00004
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_000901.5(NR3C2):c.405G>C (p.Gln135His) rs138893620 0.00004
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_000103.4(CYP19A1):c.*2032G>A rs886051272 0.00003
NM_000103.4(CYP19A1):c.*53C>T rs527749263 0.00003
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534 0.00003
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys) rs199845027 0.00003
NM_000103.4(CYP19A1):c.629-10T>C rs781489846 0.00003
NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser) rs368902124 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
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_014462.3(LSM1):c.231+4A>C rs775468919 0.00003
NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe) rs771354261 0.00003
NM_000103.4(CYP19A1):c.*2086G>A rs989880661 0.00002
NM_000103.4(CYP19A1):c.*2497T>C rs752484173 0.00002
NM_000103.4(CYP19A1):c.*2624C>T rs562193184 0.00002
NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=) rs774007712 0.00002
NM_000103.4(CYP19A1):c.1221C>T (p.Phe407=) rs764767709 0.00002
NM_000103.4(CYP19A1):c.1263+8C>A rs757404619 0.00002
NM_000103.4(CYP19A1):c.237G>A (p.Arg79=) rs749406233 0.00002
NM_000103.4(CYP19A1):c.297-1G>C rs768157788 0.00002
NM_000103.4(CYP19A1):c.859-6G>T rs756838912 0.00002
NM_000901.5(NR3C2):c.334G>C (p.Val112Leu) rs1330903694 0.00002
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_031307.4(PUS3):c.838C>T (p.Arg280Ter) rs374443634 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_000103.4(CYP19A1):c.*1019C>T rs886051274 0.00001
NM_000103.4(CYP19A1):c.*1381C>T rs1047960680 0.00001
NM_000103.4(CYP19A1):c.*1877T>G rs886051273 0.00001
NM_000103.4(CYP19A1):c.*2126G>A rs977456146 0.00001
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) rs80051519 0.00001
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys) rs121434536 0.00001
NM_000103.4(CYP19A1):c.1230C>T (p.Pro410=) rs775991900 0.00001
NM_000103.4(CYP19A1):c.1425C>T (p.His475=) rs982752444 0.00001
NM_000103.4(CYP19A1):c.146-7G>T rs1262602894 0.00001
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) rs35900050 0.00001
NM_000103.4(CYP19A1):c.625G>A (p.Asp209Asn) rs748459967 0.00001
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) rs121434538 0.00001
NM_000103.4(CYP19A1):c.637A>G (p.Ile213Val) rs1045354487 0.00001
NM_000103.4(CYP19A1):c.907A>G (p.Met303Val) rs2031445857 0.00001
NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs) rs386833476 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) rs121908871 0.00001
NM_000369.5(TSHR):c.170T>C (p.Leu57Pro) rs200401152 0.00001
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln) rs121908865 0.00001
NM_000901.5(NR3C2):c.1513G>A (p.Glu505Lys) rs774066754 0.00001
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_031307.4(PUS3):c.340T>C (p.Cys114Arg) rs752052349 0.00001
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter) rs749779829 0.00001
NM_181789.4(GLDN):c.1027G>A (p.Gly343Ser) rs867806350 0.00001
NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter) rs539703340 0.00001
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) rs775011495 0.00001
NM_206828.4(NLRP7):c.*183G>A rs886054631 0.00001
NM_206828.4(NLRP7):c.-49C>T rs886054634 0.00001
46;XX;t(10;15)(q25.2;q11.2)
46;XX;t(1;5)(p23;q15)dn
46;XY;t(3;18)(q13.31;q22.1)dn
CM000663.1:g.3411413_3431235dup
CM000664.1:g.223798501_223823141dup
CM000665.1:g.100351696_100437892dup
CM000673.1:g.42151229_42185849dup
GRCh37/hg19 12q24.31(chr12:125260645-125321461)x3
GRCh37/hg19 17q12(chr17:34437475-36243028)
GRCh37/hg19 1q24.3(chr1:172050936-172181677)
GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3
GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592)
GRCh37/hg19 3p26.3-26.1(chr3:73914-4356052)
GRCh37/hg19 4p16.3(chr4:388344-3872380)
GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1
NC_000001.11:g.111383531_111391682del
NC_000001.11:g.40877936_40912404dup
NC_000002.11:g.89427986_90240473dup
NC_000002.11:g.89427986_91820358dup
NC_000002.12:g.49630800_49638002del
NC_000003.12:g.149246905_149249548del
NC_000003.12:g.35785215_35861393dup
NC_000004.12:g.45815310_45861251dup
NC_000006.12:g.14839547_14845568del
NC_000006.12:g.19045329_19048542del
NC_000007.14:g.146096986_146099665del
NC_000007.14:g.19166813_19172086del
NC_000007.14:g.62533792_63268846dup
NC_000008.11:g.16042179_16081673dup
NC_000008.11:g.16405000_16410993del
NC_000008.11:g.5741877_5750141del
NC_000008.11:g.5741877_5750560del
NC_000008.11:g.8725600_8730080del
NC_000009.12:g.83588331_83591428del
NC_000010.11:g.133438843_133565298dup
NC_000011.10:g.83154476_83165228dup
NC_000011.10:g.8937474_8943392del
NC_000011.10:g.97981770_98652344del
NC_000012.12:g.128744329_128749559del
NC_000012.12:g.31106438_31256645dup
NC_000012.12:g.31113353_31255762dup
NC_000012.12:g.63548869_63724778dup
NC_000012.12:g.7777575_7949790dup
NC_000013.11:g.58019523_58024897del
NC_000013.11:g.83214607_83217480del
NC_000013.11:g.85294188_85330291dup
NC_000014.9:g.40385828_40389224del
NC_000014.9:g.90322590_90335706dup
NC_000015.10:g.24349669_24497505dup
NC_000015.10:g.81685124_81795773dup
NC_000015.9:g.23084443_23114374del
NC_000016.10:g.28592568_28609431dup
NC_000017.11:g.46092442_46502770dup
NC_000017.11:g.52872255_53236993del
NC_000017.11:g.79371616_79397955dup
NC_000018.10:g.30235355_30236003del rs1555628672
NC_000018.10:g.66182443_66199550dup
NC_000018.10:g.69080332_69088272del
NC_000019.10:g.54947788G>A rs9941465
NC_000021.8:g.35027142_35056247del
NM_000103.4(CYP19A1):c.*1364C>T rs2030715622
NM_000103.4(CYP19A1):c.*1441G>A rs943520982
NM_000103.4(CYP19A1):c.*1545G>T rs2030691135
NM_000103.4(CYP19A1):c.*1833C>A rs2030664773
NM_000103.4(CYP19A1):c.*1878T>C rs2030660970
NM_000103.4(CYP19A1):c.*1888A>G rs4275794
NM_000103.4(CYP19A1):c.*1888A>T rs4275794
NM_000103.4(CYP19A1):c.*191C>A rs190403648
NM_000103.4(CYP19A1):c.*191del rs546415613
NM_000103.4(CYP19A1):c.*2067T>G rs1042269504
NM_000103.4(CYP19A1):c.*2192T>C rs886051271
NM_000103.4(CYP19A1):c.*240C>A rs1379933476
NM_000103.4(CYP19A1):c.*2589C>A rs751474218
NM_000103.4(CYP19A1):c.*2607A>G rs878905692
NM_000103.4(CYP19A1):c.*2645dup rs886051269
NM_000103.4(CYP19A1):c.*483G>C rs886051276
NM_000103.4(CYP19A1):c.*638G>T rs886051275
NM_000103.4(CYP19A1):c.*646C>G rs2030790688
NM_000103.4(CYP19A1):c.*78G>T rs28757206
NM_000103.4(CYP19A1):c.-118G>A rs1053290768
NM_000103.4(CYP19A1):c.-39+14624_-39+14625del rs780146461
NM_000103.4(CYP19A1):c.-39+14640A>G rs376711291
NM_000103.4(CYP19A1):c.1022-2A>G
NM_000103.4(CYP19A1):c.1024G>T (p.Glu342Ter)
NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs) rs769461019
NM_000103.4(CYP19A1):c.1133T>C (p.Leu378Ser) rs2031101006
NM_000103.4(CYP19A1):c.1212C>A (p.Leu404=) rs772086882
NM_000103.4(CYP19A1):c.1224del (p.Lys409fs) rs786205108
NM_000103.4(CYP19A1):c.1232A>G (p.Asn411Ser)
NM_000103.4(CYP19A1):c.1263+1G>T rs2031075939
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr) rs78310315
NM_000103.4(CYP19A1):c.1369C>T (p.Arg457Ter)
NM_000103.4(CYP19A1):c.1370G>A (p.Arg457Gln) rs770120065
NM_000103.4(CYP19A1):c.1378G>A (p.Val460Met) rs372500474
NM_000103.4(CYP19A1):c.138A>C (p.Ser46=) rs766042143
NM_000103.4(CYP19A1):c.145+2T>A
NM_000103.4(CYP19A1):c.1458C>T (p.Asn486=) rs1380261840
NM_000103.4(CYP19A1):c.196C>T (p.Leu66=) rs2033435368
NM_000103.4(CYP19A1):c.228C>T (p.Tyr76=) rs775978298
NM_000103.4(CYP19A1):c.296+1G>A rs786205109
NM_000103.4(CYP19A1):c.316del (p.His105_Ile106insTer)
NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter) rs2141079375
NM_000103.4(CYP19A1):c.357A>C (p.Lys119Asn) rs2032722258
NM_000103.4(CYP19A1):c.41C>T (p.Thr14Ile) rs916256444
NM_000103.4(CYP19A1):c.469del (p.Val158fs)
NM_000103.4(CYP19A1):c.493G>A (p.Ala165Thr) rs769769335
NM_000103.4(CYP19A1):c.538A>G (p.Asn180Asp)
NM_000103.4(CYP19A1):c.629-3C>A rs786205110
NM_000103.4(CYP19A1):c.629-8dup rs750758078
NM_000103.4(CYP19A1):c.724A>T (p.Lys242Ter)
NM_000103.4(CYP19A1):c.743+2T>C rs786205107
NM_000103.4(CYP19A1):c.859-9A>G
NM_000103.4(CYP19A1):c.924T>G (p.Pro308=) rs371448768
NM_000103.4(CYP19A1):c.953T>A (p.Met318Lys)
NM_000111.3(SLC26A3):c.1000G>T (p.Glu334Ter) rs1208952914
NM_000111.3(SLC26A3):c.2006C>A (p.Ser669Ter) rs762034228
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.706G>A (p.Glu236Lys) rs587780347
NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp) rs763028380
NM_000369.5(TSHR):c.1192T>G (p.Cys398Gly)
NM_000369.5(TSHR):c.1225G>T (p.Glu409Ter)
NM_000369.5(TSHR):c.1465C>T (p.Gln489Ter)
NM_000369.5(TSHR):c.1515C>A (p.Ser505Arg)
NM_000369.5(TSHR):c.1582C>A (p.Arg528Ser)
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.1918A>G (p.Ile640Val)
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000369.5(TSHR):c.2066T>G (p.Val689Gly)
NM_000369.5(TSHR):c.2282A>C (p.Gln761Pro) rs1891848268
NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro) rs1064794318
NM_000369.5(TSHR):c.418del (p.Met140fs) rs1085307573
NM_000369.5(TSHR):c.480C>A (p.Asp160Glu)
NM_000369.5(TSHR):c.485C>T (p.Pro162Leu)
NM_000369.5(TSHR):c.548A>G (p.Lys183Arg) rs121908879
NM_000369.5(TSHR):c.692+48T>A rs28516678
NM_000369.5(TSHR):c.801_810del (p.Leu267fs)
NM_000369.5(TSHR):c.881+1G>T
NM_000379.4(XDH):c.1172C>T (p.Pro391Leu) rs1558697792
NM_000719.7(CACNA1C):c.477+16040_477+23328del
NM_000762.5(CYP2A6):c.-22817_-420del
NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg) rs1555103652
NM_000901.5(NR3C2):c.1031C>T (p.Thr344Ile)
NM_000901.5(NR3C2):c.1042A>C (p.Thr348Pro)
NM_000901.5(NR3C2):c.104A>G (p.Glu35Gly)
NM_000901.5(NR3C2):c.1051G>A (p.Gly351Arg)
NM_000901.5(NR3C2):c.1064T>G (p.Leu355Trp)
NM_000901.5(NR3C2):c.1094A>G (p.Gln365Arg)
NM_000901.5(NR3C2):c.1109A>G (p.Gln370Arg)
NM_000901.5(NR3C2):c.112G>T (p.Asp38Tyr)
NM_000901.5(NR3C2):c.1179T>A (p.Asn393Lys)
NM_000901.5(NR3C2):c.119A>G (p.Asn40Ser)
NM_000901.5(NR3C2):c.1204C>A (p.Pro402Thr)
NM_000901.5(NR3C2):c.1205C>T (p.Pro402Leu)
NM_000901.5(NR3C2):c.1245C>G (p.Ser415Arg)
NM_000901.5(NR3C2):c.1375T>C (p.Ser459Pro)
NM_000901.5(NR3C2):c.141C>A (p.Asn47Lys)
NM_000901.5(NR3C2):c.1454_1462del (p.Glu485_Ser487del)
NM_000901.5(NR3C2):c.1458C>T (p.Gly486=)
NM_000901.5(NR3C2):c.149G>T (p.Cys50Phe)
NM_000901.5(NR3C2):c.1526C>G (p.Pro509Arg)
NM_000901.5(NR3C2):c.1537A>G (p.Ile513Val)
NM_000901.5(NR3C2):c.1596A>G (p.Thr532=)
NM_000901.5(NR3C2):c.1610G>A (p.Arg537Gln)
NM_000901.5(NR3C2):c.1612T>G (p.Ser538Ala)
NM_000901.5(NR3C2):c.1621G>T (p.Asp541Tyr)
NM_000901.5(NR3C2):c.163A>T (p.Ile55Phe)
NM_000901.5(NR3C2):c.1654C>T (p.Pro552Ser)
NM_000901.5(NR3C2):c.1660A>T (p.Asn554Tyr)
NM_000901.5(NR3C2):c.1661A>C (p.Asn554Thr)
NM_000901.5(NR3C2):c.166C>G (p.Pro56Ala)
NM_000901.5(NR3C2):c.1701G>T (p.Ser567=)
NM_000901.5(NR3C2):c.1724C>T (p.Pro575Leu)
NM_000901.5(NR3C2):c.1757+3A>G
NM_000901.5(NR3C2):c.1892T>A (p.Val631Glu)
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter) rs1131691921
NM_000901.5(NR3C2):c.1954C>T (p.Arg652Ter)
NM_000901.5(NR3C2):c.2018G>A (p.Arg673Gln) rs1420676853
NM_000901.5(NR3C2):c.2055C>A (p.His685Gln) rs772344575
NM_000901.5(NR3C2):c.2071C>A (p.Gln691Lys)
NM_000901.5(NR3C2):c.2092C>T (p.Pro698Ser)
NM_000901.5(NR3C2):c.2133C>G (p.Ile711Met)
NM_000901.5(NR3C2):c.2134G>T (p.Ala712Ser)
NM_000901.5(NR3C2):c.2145A>G (p.Lys715=)
NM_000901.5(NR3C2):c.2151C>T (p.Pro717=)
NM_000901.5(NR3C2):c.2195G>A (p.Arg732Gln)
NM_000901.5(NR3C2):c.2198C>A (p.Ala733Glu)
NM_000901.5(NR3C2):c.2233A>G (p.Ile745Val)
NM_000901.5(NR3C2):c.2287G>C (p.Glu763Gln)
NM_000901.5(NR3C2):c.2311C>A (p.Arg771Ser)
NM_000901.5(NR3C2):c.2324A>G (p.Lys775Arg)
NM_000901.5(NR3C2):c.2341G>A (p.Val781Met)
NM_000901.5(NR3C2):c.2392C>A (p.Gln798Lys)
NM_000901.5(NR3C2):c.239G>A (p.Arg80Gln)
NM_000901.5(NR3C2):c.2429C>T (p.Ser810Leu) rs41511344
NM_000901.5(NR3C2):c.2474A>G (p.Gln825Arg)
NM_000901.5(NR3C2):c.262A>G (p.Ile88Val)
NM_000901.5(NR3C2):c.2789C>G (p.Ser930Cys)
NM_000901.5(NR3C2):c.2799+5G>A rs1732166299
NM_000901.5(NR3C2):c.2809G>A (p.Asp937Asn) rs886059129
NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter) rs121912569
NM_000901.5(NR3C2):c.289C>A (p.Leu97Ile)
NM_000901.5(NR3C2):c.2909A>T (p.Lys970Met)
NM_000901.5(NR3C2):c.2911G>A (p.Val971Met)
NM_000901.5(NR3C2):c.2944C>T (p.His982Tyr)
NM_000901.5(NR3C2):c.320_322dup (p.Leu107_Tyr108insLeu)
NM_000901.5(NR3C2):c.355T>C (p.Tyr119His)
NM_000901.5(NR3C2):c.382A>G (p.Met128Val)
NM_000901.5(NR3C2):c.391G>C (p.Ala131Pro)
NM_000901.5(NR3C2):c.403C>G (p.Gln135Glu)
NM_000901.5(NR3C2):c.53G>A (p.Arg18Gln)
NM_000901.5(NR3C2):c.543_566del (p.Ile185_Pro192del)
NM_000901.5(NR3C2):c.577T>C (p.Ser193Pro)
NM_000901.5(NR3C2):c.596A>T (p.Asn199Ile)
NM_000901.5(NR3C2):c.598A>C (p.Met200Leu)
NM_000901.5(NR3C2):c.605C>G (p.Ser202Cys)
NM_000901.5(NR3C2):c.65T>A (p.Val22Asp)
NM_000901.5(NR3C2):c.673G>T (p.Val225Leu)
NM_000901.5(NR3C2):c.712T>A (p.Ser238Thr)
NM_000901.5(NR3C2):c.822C>G (p.Ser274Arg)
NM_000901.5(NR3C2):c.908T>C (p.Ile303Thr)
NM_000901.5(NR3C2):c.90C>T (p.Ser30=) rs757033341
NM_000901.5(NR3C2):c.934A>G (p.Ser312Gly) rs1750038176
NM_000901.5(NR3C2):c.974C>T (p.Pro325Leu)
NM_000901.5(NR3C2):c.989T>C (p.Val330Ala)
NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg) rs1057519011
NM_001004708.1(OR4D6):c.-19514_20175del
NM_001008392.2(CTDSPL):c.80-8666_80-2299del
NM_001010848.3(NRG3):c.824-173790_824-159316del
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_001025616.2(ARHGAP24):c.-186452_-21+35669dup
NM_001035006.5(RPL17):c.452del (p.Thr151fs)
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_001135924.3(VWDE):c.541+441_879+501del
NM_001142864.4(PIEZO1):c.4519G>C (p.Val1507Leu) rs1256752400
NM_001142864.4(PIEZO1):c.6392T>C (p.Leu2131Pro)
NM_001145728.2(LMNTD1):c.*22+2227_*22+7996del
NM_001164405.1(BHLHA9):c.-56867_66089del
NM_001244606.1(IMMP2L):c.239+53584_239+101346del
NM_001267803.1(PAAF1):c.*451_*70114dup
NM_001282805.1(MARCH7):c.-247472_-1723dup
NM_001302084.2(TOP6BL):c.1273_1274del (p.Lys425fs)
NM_001302084.2(TOP6BL):c.285dup (p.Glu96Ter) rs779402951
NM_001363059.2(MTUS1):c.2288-795_2449+390del
NM_001377.3(DYNC2H1):c.10461+1G>A rs1057518898
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_002531.2(NTSR1):c.*2254_*20847del
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) rs1057518963
NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser) rs1938405472
NM_005100.4(AKAP12):c.163-8647_163-5271del
NM_006587.4(CORIN):c.1414A>G (p.Ser472Gly) rs387906895
NM_006587.4(CORIN):c.949A>G (p.Lys317Glu) rs387906894
NM_014932.4(NLGN1):c.-320-82616_-320-21032dup
NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys)
NM_015194.3(MYO1D):c.2865-44956_2865-37036del
NM_016316.4(REV1):c.351-3232_513dup
NM_016329.4(SFMBT1):c.-130-31769_-130-30020del
NM_018012.4(KIF26B):c.1166+53868_1166+59172del
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) rs886041936
NM_018557.3(LRP1B):c.344-65793_344-61550del
NM_021156.3(TMX4):c.*826_*5132dup
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022489.4(INF2):c.3247A>G (p.Ser1083Gly) rs1555375554
NM_024795.3(TM4SF20):c.-14304_183+492dup
NM_031226.3(CYP19A1):c.297del
NM_032199.3(ARID5B):c.1302del (p.Asn434fs)
NM_032793.5(MFSD2A):c.229-25_229-23del rs1570238098
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) rs1057518944
NM_138694.4(PKHD1):c.2716-3C>G rs1057518964
NM_139265.3(EHD4):c.*803_*33733dup
NM_144682.5(SLFN13):c.2109_*83579del
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)
NM_152721.6(DOK6):c.67-22582_67-14452del
NM_178466.5(BPIFA3):c.127+1119_621+52del
NM_181789.4(GLDN):c.95C>G (p.Ala32Gly) rs779432560
NR_002812.3(HCG26):n.-83887_14635dup
NR_031714.1(MIR1324):n.-251239_47012del
NR_037466.1(MIR3180-4):n.-250198_93962del
NR_110592.1(LINC01238):n.972-495_131503del
NR_125764.1(LINC01322):n.201-50931_201-19041del
NR_135237.1(LOC730100):n.754-62628_754-62323del rs1553354646
Single allele

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