ClinVar Miner

List of variants reported as benign for congenital hypogonadotropic hypogonadism by Invitae

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 525
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HGVS dbSNP gnomAD frequency
NM_012431.3(SEMA3E):c.998+12A>T rs2245441 0.51207
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=) rs2722985 0.49353
NM_012431.3(SEMA3E):c.276+3966C>G rs2255715 0.45623
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=) rs2722974 0.35335
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) rs61729612 0.11028
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) rs2371545 0.07602
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_012414.4(RAB3GAP2):c.1041-18A>C rs73098579 0.04963
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_025000.4(DCAF17):c.939G>A (p.Gln313=) rs61731491 0.04289
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_012414.4(RAB3GAP2):c.713-12T>C rs76473498 0.03857
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) rs61636768 0.03837
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) rs61729610 0.02589
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) rs28505908 0.01156
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_000061.3(BTK):c.531T>C (p.Pro177=) rs148358153 0.00738
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) rs61729608 0.00518
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986 0.00475
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=) rs80079143 0.00465
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00396
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453 0.00217
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729 0.00206
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710 0.00187
NM_025000.4(DCAF17):c.127-15C>A rs146556466 0.00184
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742 0.00153
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127 0.00152
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920 0.00149
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_025000.4(DCAF17):c.1320T>C (p.Ala440=) rs3731980 0.00143
NM_017780.4(CHD7):c.3522+13T>A rs199581494 0.00126
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_003865.3(HESX1):c.90C>T (p.Asp30=) rs115448575 0.00117
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_025000.4(DCAF17):c.459-19_459-17del rs546878583 0.00095
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=) rs201663991 0.00080
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566 0.00069
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_012414.4(RAB3GAP2):c.3226-18T>G rs139628150 0.00061
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
NM_017780.4(CHD7):c.5300+8C>T rs151322460 0.00055
NM_012414.4(RAB3GAP2):c.613-14T>A rs374690916 0.00053
NM_025000.4(DCAF17):c.537+16C>T rs142462938 0.00052
NM_017780.4(CHD7):c.2829G>A (p.Glu943=) rs374877439 0.00051
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844 0.00050
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722 0.00048
NM_000061.3(BTK):c.1698G>A (p.Pro566=) rs3208812 0.00044
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732 0.00043
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685 0.00038
NM_000061.3(BTK):c.707G>A (p.Arg236Gln) rs147036606 0.00036
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_017780.4(CHD7):c.1666-15A>G rs372978951 0.00035
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489 0.00035
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177 0.00033
NM_000061.3(BTK):c.1701A>G (p.Glu567=) rs146681416 0.00032
NM_017780.4(CHD7):c.1958C>T (p.Pro653Leu) rs200536932 0.00032
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164 0.00030
NM_017780.4(CHD7):c.6483T>A (p.His2161Gln) rs185505138 0.00030
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_000061.3(BTK):c.1909-9T>C rs782702231 0.00029
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246 0.00029
NM_000061.3(BTK):c.625G>T (p.Ala209Ser) rs138352992 0.00028
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384 0.00028
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568 0.00023
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_017780.4(CHD7):c.1473C>T (p.Ile491=) rs182294889 0.00019
NM_017780.4(CHD7):c.6103+6T>C rs371509438 0.00017
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser) rs370972259 0.00017
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766 0.00016
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 0.00014
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408 0.00014
NM_017780.4(CHD7):c.4645-9T>C rs766575601 0.00014
NM_025000.4(DCAF17):c.1266+14C>T rs185407539 0.00014
NM_017780.4(CHD7):c.1423A>G (p.Met475Val) rs773039925 0.00013
NM_000061.3(BTK):c.1566+18T>C rs367698178 0.00012
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys) rs770842444 0.00012
NM_000475.5(NR0B1):c.96G>C (p.Thr32=) rs752999448 0.00012
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212 0.00012
NM_000061.3(BTK):c.1104A>G (p.Gly368=) rs781940603 0.00011
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 0.00011
NM_017780.4(CHD7):c.2273G>A (p.Arg758His) rs202208393 0.00011
NM_017780.4(CHD7):c.8423A>G (p.Asn2808Ser) rs368224943 0.00011
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg) rs200907656 0.00010
NM_017780.4(CHD7):c.2182G>C (p.Asp728His) rs756365280 0.00009
NM_017780.4(CHD7):c.608A>G (p.His203Arg) rs375277827 0.00009
NM_017780.4(CHD7):c.1324G>A (p.Ala442Thr) rs368086966 0.00008
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422 0.00008
NM_017780.4(CHD7):c.3778+17C>T rs111863846 0.00008
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) rs373869399 0.00008
NM_017780.4(CHD7):c.6112G>A (p.Asp2038Asn) rs747846723 0.00008
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203 0.00008
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308 0.00008
NM_000061.3(BTK):c.1977C>T (p.Ser659=) rs782047787 0.00007
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala) rs746837682 0.00007
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser) rs147164392 0.00007
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840 0.00007
NM_017780.4(CHD7):c.805G>A (p.Val269Ile) rs747972265 0.00007
NM_017780.4(CHD7):c.8692A>G (p.Met2898Val) rs755028719 0.00007
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr) rs749781761 0.00006
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366 0.00006
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys) rs377330239 0.00006
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val) rs61737194 0.00006
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val) rs368747227 0.00006
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln) rs371988345 0.00006
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240 0.00006
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr) rs537091457 0.00006
NM_000061.3(BTK):c.1103-11C>G rs782217532 0.00005
NM_000061.3(BTK):c.1750+10T>C rs374131821 0.00005
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) rs766116884 0.00005
NM_017780.4(CHD7):c.1104C>T (p.His368=) rs763250461 0.00005
NM_017780.4(CHD7):c.1562C>T (p.Pro521Leu) rs373211059 0.00005
NM_017780.4(CHD7):c.1966C>T (p.Pro656Ser) rs769003426 0.00005
NM_017780.4(CHD7):c.2675G>A (p.Arg892His) rs200188105 0.00005
NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr) rs771781756 0.00005
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn) rs370599133 0.00005
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840 0.00005
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg) rs765315726 0.00005
NM_000061.3(BTK):c.1276G>A (p.Asp426Asn) rs782813365 0.00004
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_017780.4(CHD7):c.1029C>T (p.Ser343=) rs570815501 0.00004
NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe) rs373112189 0.00004
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) rs746633621 0.00004
NM_017780.4(CHD7):c.2498+12G>T rs557099951 0.00004
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 0.00004
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439 0.00004
NM_017780.4(CHD7):c.4859G>A (p.Arg1620Gln) rs768497646 0.00004
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055 0.00004
NM_017780.4(CHD7):c.521C>T (p.Pro174Leu) rs767279224 0.00004
NM_017780.4(CHD7):c.524C>T (p.Ser175Leu) rs370305211 0.00004
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr) rs368609862 0.00004
NM_017780.4(CHD7):c.5665+11A>G rs765928233 0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val) rs748578338 0.00004
NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe) rs561398606 0.00004
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr) rs766776212 0.00004
NM_017780.4(CHD7):c.6293G>A (p.Arg2098Gln) rs375199214 0.00004
NM_017780.4(CHD7):c.6571G>A (p.Glu2191Lys) rs727503867 0.00004
NM_017780.4(CHD7):c.6589G>A (p.Asp2197Asn) rs772379262 0.00004
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val) rs1329751221 0.00004
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln) rs761410781 0.00004
NM_017780.4(CHD7):c.7283G>A (p.Arg2428Gln) rs563360548 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_017780.4(CHD7):c.8595G>A (p.Ser2865=) rs757002335 0.00004
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_012431.3(SEMA3E):c.551-6G>A rs535143722 0.00003
NM_017780.4(CHD7):c.1373C>G (p.Ser458Cys) rs767302034 0.00003
NM_017780.4(CHD7):c.1677G>A (p.Ser559=) rs568348314 0.00003
NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu) rs776871277 0.00003
NM_017780.4(CHD7):c.2758C>T (p.Arg920Trp) rs773773546 0.00003
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959 0.00003
NM_017780.4(CHD7):c.4894C>T (p.Arg1632Cys) rs545545721 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 0.00003
NM_017780.4(CHD7):c.6677A>G (p.Asp2226Gly) rs755396598 0.00003
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu) rs199966549 0.00003
NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr) rs370231679 0.00003
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala) rs754831415 0.00003
NM_000061.3(BTK):c.1350-17C>A rs563329397 0.00002
NM_000061.3(BTK):c.520+13A>G rs201408619 0.00002
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_012414.4(RAB3GAP2):c.2417-4A>G rs577016598 0.00002
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00002
NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu) rs765180149 0.00002
NM_017780.4(CHD7):c.1261C>A (p.Pro421Thr) rs758228667 0.00002
NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys) rs767819417 0.00002
NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp) rs371742009 0.00002
NM_017780.4(CHD7):c.2690G>A (p.Arg897Gln) rs773685788 0.00002
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala) rs370194460 0.00002
NM_017780.4(CHD7):c.296C>T (p.Ala99Val) rs772466277 0.00002
NM_017780.4(CHD7):c.304C>A (p.His102Asn) rs761253760 0.00002
NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val) rs1271767085 0.00002
NM_017780.4(CHD7):c.3696C>T (p.Gly1232=) rs774107363 0.00002
NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu) rs371385411 0.00002
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu) rs61742851 0.00002
NM_017780.4(CHD7):c.5017G>A (p.Asp1673Asn) rs769563309 0.00002
NM_017780.4(CHD7):c.5336C>T (p.Ala1779Val) rs753913368 0.00002
NM_017780.4(CHD7):c.5467A>G (p.Met1823Val) rs769931428 0.00002
NM_017780.4(CHD7):c.6199C>G (p.Gln2067Glu) rs766862122 0.00002
NM_017780.4(CHD7):c.6598G>A (p.Gly2200Arg) rs747357928 0.00002
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr) rs374408098 0.00002
NM_017780.4(CHD7):c.6680C>G (p.Thr2227Ser) rs1416622951 0.00002
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169 0.00002
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met) rs189926848 0.00002
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) rs372546969 0.00002
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) rs371930390 0.00002
NM_017780.4(CHD7):c.756G>A (p.Ser252=) rs371000762 0.00002
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp) rs775888715 0.00002
NM_017780.4(CHD7):c.8188G>A (p.Ala2730Thr) rs757707495 0.00002
NM_017780.4(CHD7):c.8507C>T (p.Pro2836Leu) rs925177812 0.00002
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) rs147534616 0.00002
NM_017780.4(CHD7):c.8759G>C (p.Gly2920Ala) rs769008751 0.00002
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) rs201793562 0.00002
NM_000061.3(BTK):c.240+7A>C rs782299012 0.00001
NM_000061.3(BTK):c.520+16G>A rs782819971 0.00001
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=) rs572970359 0.00001
NM_003865.3(HESX1):c.183T>C (p.His61=) rs374187836 0.00001
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922 0.00001
NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala) rs878893652 0.00001
NM_017780.4(CHD7):c.1141A>G (p.Met381Val) rs144778638 0.00001
NM_017780.4(CHD7):c.124C>T (p.Pro42Ser) rs1300386910 0.00001
NM_017780.4(CHD7):c.1327A>G (p.Met443Val) rs559364802 0.00001
NM_017780.4(CHD7):c.139T>G (p.Phe47Val) rs1364452059 0.00001
NM_017780.4(CHD7):c.1566C>T (p.Gly522=) rs759347960 0.00001
NM_017780.4(CHD7):c.164A>G (p.His55Arg) rs121434345 0.00001
NM_017780.4(CHD7):c.1657G>T (p.Val553Leu) rs745476515 0.00001
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu) rs757689264 0.00001
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val) rs769625033 0.00001
NM_017780.4(CHD7):c.176C>G (p.Thr59Ser) rs548706525 0.00001
NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr) rs1187193827 0.00001
NM_017780.4(CHD7):c.2063C>T (p.Ala688Val) rs759010289 0.00001
NM_017780.4(CHD7):c.2827G>A (p.Glu943Lys) rs751691380 0.00001
NM_017780.4(CHD7):c.2874T>A (p.Ser958Arg) rs773259542 0.00001
NM_017780.4(CHD7):c.289G>A (p.Gly97Arg) rs368160678 0.00001
NM_017780.4(CHD7):c.3001A>G (p.Ile1001Val) rs375374626 0.00001
NM_017780.4(CHD7):c.302C>T (p.Pro101Leu) rs769161426 0.00001
NM_017780.4(CHD7):c.3054T>G (p.Pro1018=) rs201320784 0.00001
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702 0.00001
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln) rs185150226 0.00001
NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala) rs372587744 0.00001
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn) rs748590759 0.00001
NM_017780.4(CHD7):c.5148C>T (p.Cys1716=) rs907665748 0.00001
NM_017780.4(CHD7):c.528G>A (p.Gly176=) rs986970598 0.00001
NM_017780.4(CHD7):c.5367A>T (p.Glu1789Asp) rs1233584524 0.00001
NM_017780.4(CHD7):c.548C>T (p.Pro183Leu) rs751847978 0.00001
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys) rs766110936 0.00001
NM_017780.4(CHD7):c.5722A>C (p.Thr1908Pro) rs1329534393 0.00001
NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys) rs535347450 0.00001
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) rs753723769 0.00001
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln) rs374040699 0.00001
NM_017780.4(CHD7):c.583C>T (p.Arg195Cys) rs773990845 0.00001
NM_017780.4(CHD7):c.6195C>T (p.Arg2065=) rs750835437 0.00001
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr) rs377497122 0.00001
NM_017780.4(CHD7):c.6349C>T (p.Leu2117Phe) rs367733295 0.00001
NM_017780.4(CHD7):c.6358C>G (p.Pro2120Ala) rs375490876 0.00001
NM_017780.4(CHD7):c.6596G>A (p.Ser2199Asn) rs1064794854 0.00001
NM_017780.4(CHD7):c.6670G>A (p.Gly2224Ser) rs758745100 0.00001
NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val) rs755973702 0.00001
NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu) rs766773531 0.00001
NM_017780.4(CHD7):c.7024T>C (p.Phe2342Leu) rs1419897952 0.00001
NM_017780.4(CHD7):c.702C>G (p.His234Gln) rs565216093 0.00001
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) rs753446252 0.00001
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln) rs534510177 0.00001
NM_017780.4(CHD7):c.733A>G (p.Met245Val) rs768507639 0.00001
NM_017780.4(CHD7):c.7469C>T (p.Ser2490Leu) rs371595770 0.00001
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His) rs528722099 0.00001
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser) rs547209998 0.00001
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005 0.00001
NM_017780.4(CHD7):c.8040A>G (p.Ala2680=) rs576905094 0.00001
NM_017780.4(CHD7):c.8128C>T (p.Arg2710Trp) rs1418386669 0.00001
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val) rs573554562 0.00001
NM_017780.4(CHD7):c.8168G>A (p.Ser2723Asn) rs756347672 0.00001
NM_017780.4(CHD7):c.8365G>A (p.Ala2789Thr) rs200140270 0.00001
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg) rs760775347 0.00001
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys) rs774843956 0.00001
NM_017780.4(CHD7):c.8562C>G (p.Asn2854Lys) rs1222693383 0.00001
NM_017780.4(CHD7):c.8773G>A (p.Ala2925Thr) rs762344310 0.00001
NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys) rs374344463 0.00001
NM_017780.4(CHD7):c.8803G>A (p.Glu2935Lys) rs745944842 0.00001
NM_017780.4(CHD7):c.883C>T (p.Arg295Trp) rs750978197 0.00001
NM_017780.4(CHD7):c.910A>G (p.Ile304Val) rs1274555136 0.00001
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556 0.00001
NM_017780.4(CHD7):c.988C>G (p.Gln330Glu) rs1053945677 0.00001
NM_017780.4(CHD7):c.98C>G (p.Pro33Arg) rs763572916 0.00001
NM_000061.3(BTK):c.1011T>C (p.Cys337=)
NM_000061.3(BTK):c.1102+7A>G
NM_000061.3(BTK):c.1177+7C>T
NM_000061.3(BTK):c.1178-12C>T
NM_000061.3(BTK):c.1485T>C (p.Thr495=)
NM_000061.3(BTK):c.1539G>A (p.Glu513=)
NM_000061.3(BTK):c.1632-20A>C
NM_000061.3(BTK):c.1751-17T>C
NM_000061.3(BTK):c.240+12_240+24del
NM_000061.3(BTK):c.241-16dup rs1401131061
NM_000061.3(BTK):c.241-3C>T
NM_000061.3(BTK):c.309+11T>C
NM_000061.3(BTK):c.310-20C>A
NM_000061.3(BTK):c.310-8C>T
NM_000061.3(BTK):c.345C>T (p.Ser115=) rs782476406
NM_000061.3(BTK):c.414G>T (p.Leu138=)
NM_000061.3(BTK):c.520+15C>G
NM_000061.3(BTK):c.520+15C>T rs782697907
NM_000061.3(BTK):c.521-5del
NM_000061.3(BTK):c.777-17C>A
NM_000061.3(BTK):c.895-11C>T
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
NM_000475.5(NR0B1):c.1168+10C>G
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
NM_003865.3(HESX1):c.358-6del
NM_003865.3(HESX1):c.358-6dup
NM_012414.4(RAB3GAP2):c.1126G>A (p.Val376Ile)
NM_012414.4(RAB3GAP2):c.2310+13dup
NM_012414.4(RAB3GAP2):c.2578-6dup
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696
NM_012414.4(RAB3GAP2):c.3262-4dup
NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=) rs539609673
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.812-6del rs35396665
NM_012414.4(RAB3GAP2):c.812-6dup rs35396665
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665
NM_012431.3(SEMA3E):c.1459-11dup rs1788078377
NM_012431.3(SEMA3E):c.337-11del rs536827692
NM_012431.3(SEMA3E):c.337-11dup rs536827692
NM_012431.3(SEMA3E):c.337-9C>T rs1352755933
NM_012431.3(SEMA3E):c.551-19del
NM_012431.3(SEMA3E):c.999-12dup rs1418610753
NM_017780.4(CHD7):c.1032A>G (p.Val344=)
NM_017780.4(CHD7):c.106C>T (p.Pro36Ser)
NM_017780.4(CHD7):c.1095G>C (p.Gln365His)
NM_017780.4(CHD7):c.1117C>T (p.Leu373Phe)
NM_017780.4(CHD7):c.1172C>G (p.Ala391Gly)
NM_017780.4(CHD7):c.1180C>T (p.Pro394Ser)
NM_017780.4(CHD7):c.1186A>G (p.Met396Val)
NM_017780.4(CHD7):c.1195A>G (p.Met399Val)
NM_017780.4(CHD7):c.1204A>G (p.Met402Val)
NM_017780.4(CHD7):c.1247G>A (p.Gly416Glu)
NM_017780.4(CHD7):c.1285A>C (p.Asn429His) rs771200821
NM_017780.4(CHD7):c.1285A>G (p.Asn429Asp)
NM_017780.4(CHD7):c.1304C>T (p.Pro435Leu)
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala) rs772369092
NM_017780.4(CHD7):c.1321G>T (p.Gly441Cys)
NM_017780.4(CHD7):c.1337G>A (p.Gly446Glu)
NM_017780.4(CHD7):c.1376G>A (p.Arg459His)
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly) rs868107005
NM_017780.4(CHD7):c.1497A>G (p.Gln499=)
NM_017780.4(CHD7):c.1509T>C (p.Gly503=)
NM_017780.4(CHD7):c.1570C>T (p.His524Tyr)
NM_017780.4(CHD7):c.1678G>A (p.Glu560Lys)
NM_017780.4(CHD7):c.1708A>G (p.Met570Val)
NM_017780.4(CHD7):c.1716G>C (p.Gln572His)
NM_017780.4(CHD7):c.18G>T (p.Met6Ile)
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2096+21dup rs111577577
NM_017780.4(CHD7):c.2097-19G>A rs559713378
NM_017780.4(CHD7):c.2183A>G (p.Asp728Gly) rs749679283
NM_017780.4(CHD7):c.2224G>A (p.Asp742Asn)
NM_017780.4(CHD7):c.2295C>G (p.Phe765Leu)
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2662A>G (p.Met888Val)
NM_017780.4(CHD7):c.2670T>C (p.Phe890=)
NM_017780.4(CHD7):c.2835+18G>C rs143580627
NM_017780.4(CHD7):c.2916G>A (p.Gln972=)
NM_017780.4(CHD7):c.295G>A (p.Ala99Thr) rs779024959
NM_017780.4(CHD7):c.328G>A (p.Val110Ile)
NM_017780.4(CHD7):c.3423G>A (p.Val1141=)
NM_017780.4(CHD7):c.3600C>T (p.Pro1200=)
NM_017780.4(CHD7):c.3651T>C (p.Tyr1217=)
NM_017780.4(CHD7):c.3695G>A (p.Gly1232Asp)
NM_017780.4(CHD7):c.4101G>A (p.Arg1367=)
NM_017780.4(CHD7):c.425G>C (p.Ser142Thr)
NM_017780.4(CHD7):c.4324A>G (p.Met1442Val)
NM_017780.4(CHD7):c.4515A>G (p.Lys1505=)
NM_017780.4(CHD7):c.4895G>A (p.Arg1632His)
NM_017780.4(CHD7):c.5039T>C (p.Val1680Ala) rs746011394
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile) rs1236442873
NM_017780.4(CHD7):c.5114C>T (p.Pro1705Leu)
NM_017780.4(CHD7):c.5123A>G (p.Gln1708Arg)
NM_017780.4(CHD7):c.5181C>T (p.Tyr1727=)
NM_017780.4(CHD7):c.5269G>A (p.Ala1757Thr)
NM_017780.4(CHD7):c.5272G>A (p.Asp1758Asn)
NM_017780.4(CHD7):c.5291C>T (p.Ala1764Val)
NM_017780.4(CHD7):c.530C>G (p.Pro177Arg)
NM_017780.4(CHD7):c.532C>G (p.Pro178Ala) rs766416900
NM_017780.4(CHD7):c.546C>T (p.His182=)
NM_017780.4(CHD7):c.555C>A (p.His185Gln)
NM_017780.4(CHD7):c.5568A>G (p.Glu1856=)
NM_017780.4(CHD7):c.5637G>A (p.Lys1879=)
NM_017780.4(CHD7):c.5666-13dup
NM_017780.4(CHD7):c.5825G>A (p.Arg1942Gln)
NM_017780.4(CHD7):c.5827C>T (p.Arg1943Trp)
NM_017780.4(CHD7):c.5856A>T (p.Glu1952Asp)
NM_017780.4(CHD7):c.5888G>A (p.Arg1963Gln)
NM_017780.4(CHD7):c.5985C>T (p.Asn1995=)
NM_017780.4(CHD7):c.6135G>T (p.Pro2045=) rs6999971
NM_017780.4(CHD7):c.6196G>C (p.Glu2066Gln)
NM_017780.4(CHD7):c.6261G>A (p.Leu2087=)
NM_017780.4(CHD7):c.6373T>C (p.Leu2125=)
NM_017780.4(CHD7):c.6392T>G (p.Phe2131Cys)
NM_017780.4(CHD7):c.6439G>A (p.Ala2147Thr)
NM_017780.4(CHD7):c.6446G>A (p.Gly2149Glu)
NM_017780.4(CHD7):c.6514G>A (p.Glu2172Lys)
NM_017780.4(CHD7):c.6521A>G (p.Lys2174Arg)
NM_017780.4(CHD7):c.6570A>G (p.Lys2190=)
NM_017780.4(CHD7):c.6653T>C (p.Leu2218Pro)
NM_017780.4(CHD7):c.6672C>T (p.Gly2224=)
NM_017780.4(CHD7):c.6681T>G (p.Thr2227=)
NM_017780.4(CHD7):c.6692C>G (p.Ser2231Cys) rs554415600
NM_017780.4(CHD7):c.6744C>A (p.Asp2248Glu)
NM_017780.4(CHD7):c.6744C>T (p.Asp2248=)
NM_017780.4(CHD7):c.6766C>G (p.Gln2256Glu)
NM_017780.4(CHD7):c.685A>C (p.Thr229Pro) rs767816305
NM_017780.4(CHD7):c.6913T>C (p.Phe2305Leu)
NM_017780.4(CHD7):c.6918C>G (p.Ala2306=)
NM_017780.4(CHD7):c.6921C>T (p.Phe2307=)
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.7083G>T (p.Arg2361Ser)
NM_017780.4(CHD7):c.7090G>T (p.Ala2364Ser)
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro) rs541818422
NM_017780.4(CHD7):c.7107C>A (p.Val2369=) rs773674773
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser) rs185940313
NM_017780.4(CHD7):c.7193G>A (p.Arg2398His)
NM_017780.4(CHD7):c.7250G>T (p.Arg2417Met)
NM_017780.4(CHD7):c.7313A>G (p.Gln2438Arg)
NM_017780.4(CHD7):c.7357A>G (p.Ser2453Gly)
NM_017780.4(CHD7):c.7363A>G (p.Thr2455Ala)
NM_017780.4(CHD7):c.7444A>G (p.Met2482Val)
NM_017780.4(CHD7):c.7446G>A (p.Met2482Ile)
NM_017780.4(CHD7):c.7471C>T (p.Arg2491Cys)
NM_017780.4(CHD7):c.747G>A (p.Leu249=)
NM_017780.4(CHD7):c.749G>A (p.Arg250His)
NM_017780.4(CHD7):c.7592G>A (p.Arg2531Gln)
NM_017780.4(CHD7):c.770A>G (p.His257Arg)
NM_017780.4(CHD7):c.7714A>G (p.Ile2572Val)
NM_017780.4(CHD7):c.7797T>A (p.Pro2599=)
NM_017780.4(CHD7):c.7849T>C (p.Phe2617Leu)
NM_017780.4(CHD7):c.7959A>C (p.Arg2653=)
NM_017780.4(CHD7):c.7993C>G (p.Pro2665Ala)
NM_017780.4(CHD7):c.8004T>G (p.Asp2668Glu)
NM_017780.4(CHD7):c.8093C>T (p.Ser2698Leu)
NM_017780.4(CHD7):c.8175C>T (p.Ile2725=)
NM_017780.4(CHD7):c.8176G>A (p.Ala2726Thr)
NM_017780.4(CHD7):c.8189C>A (p.Ala2730Glu) rs779381935
NM_017780.4(CHD7):c.8189C>T (p.Ala2730Val) rs779381935
NM_017780.4(CHD7):c.8308G>A (p.Ala2770Thr)
NM_017780.4(CHD7):c.830C>T (p.Pro277Leu)
NM_017780.4(CHD7):c.8310A>G (p.Ala2770=)
NM_017780.4(CHD7):c.8320G>A (p.Gly2774Ser)
NM_017780.4(CHD7):c.8359G>A (p.Gly2787Ser)
NM_017780.4(CHD7):c.8362G>A (p.Asp2788Asn)
NM_017780.4(CHD7):c.8436G>T (p.Leu2812Phe) rs755563758
NM_017780.4(CHD7):c.8474G>T (p.Gly2825Val)
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.8554G>A (p.Asp2852Asn)
NM_017780.4(CHD7):c.8571T>C (p.Ser2857=)
NM_017780.4(CHD7):c.8609C>T (p.Ala2870Val)
NM_017780.4(CHD7):c.8700G>A (p.Pro2900=)
NM_017780.4(CHD7):c.8842A>G (p.Lys2948Glu) rs1467824778
NM_017780.4(CHD7):c.8920G>A (p.Glu2974Lys)
NM_017780.4(CHD7):c.8948C>T (p.Ser2983Leu)
NM_025000.4(DCAF17):c.102C>T (p.Gly34=)
NM_025000.4(DCAF17):c.126+21del
NM_025000.4(DCAF17):c.127-3dup
NM_025000.4(DCAF17):c.230+10del
NM_025000.4(DCAF17):c.322-14del rs201494527
NM_025000.4(DCAF17):c.322-15dup rs139655160
NM_025000.4(DCAF17):c.322-3del
NM_025000.4(DCAF17):c.322-3dup rs372539451
NM_025000.4(DCAF17):c.322-4_322-3del
NM_025000.4(DCAF17):c.322-5_322-3dup
NM_025000.4(DCAF17):c.628-6del
NM_025000.4(DCAF17):c.838+25dup

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