ClinVar Miner

List of variants in gene CHD7 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 518
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HGVS dbSNP
CHD7, DEL EXONS 8-12
NC_000008.10:g.(?_61653972)_(61778512_?)del
NM_001316690.1(CHD7):c.1717-38296T>C
NM_017780.3(CHD7):c.*2104T>A rs16926520
NM_017780.3(CHD7):c.2613+1delG rs1060503189
NM_017780.4(CHD7):c.*1189A>C rs4738834
NM_017780.4(CHD7):c.*127del rs11322994
NM_017780.4(CHD7):c.*1444T>G rs4237040
NM_017780.4(CHD7):c.*1469G>T rs886063051
NM_017780.4(CHD7):c.*1495C>T rs139790301
NM_017780.4(CHD7):c.*1502G>A rs181017286
NM_017780.4(CHD7):c.*1577C>G rs886063052
NM_017780.4(CHD7):c.*1579A>G rs10100774
NM_017780.4(CHD7):c.*1644A>G rs886063053
NM_017780.4(CHD7):c.*1663_*1664AG[1] rs761460675
NM_017780.4(CHD7):c.*1698T>G rs544498983
NM_017780.4(CHD7):c.*1728T>C rs2280917
NM_017780.4(CHD7):c.*1788C>T rs527801100
NM_017780.4(CHD7):c.*1797C>T rs6985168
NM_017780.4(CHD7):c.*1832A>G rs886063055
NM_017780.4(CHD7):c.*19C>A rs371417969
NM_017780.4(CHD7):c.*251T>C rs529121143
NM_017780.4(CHD7):c.*293G>C rs886063044
NM_017780.4(CHD7):c.*338del rs886063045
NM_017780.4(CHD7):c.*505C>T rs886063046
NM_017780.4(CHD7):c.*622G>A rs886063047
NM_017780.4(CHD7):c.*659T>C rs886063048
NM_017780.4(CHD7):c.*731G>A rs886063049
NM_017780.4(CHD7):c.*839A>G rs886063050
NM_017780.4(CHD7):c.*965G>A rs575515698
NM_017780.4(CHD7):c.*96C>A rs193154029
NM_017780.4(CHD7):c.-230G>C rs886063030
NM_017780.4(CHD7):c.-249C>G rs886063029
NM_017780.4(CHD7):c.-298C>A rs886063028
NM_017780.4(CHD7):c.-327C>G rs531113504
NM_017780.4(CHD7):c.-380C>T rs113958504
NM_017780.4(CHD7):c.-465_-463GCG[8] rs71245513
NM_017780.4(CHD7):c.-466A>G rs71513464
NM_017780.4(CHD7):c.-466_-461del rs886063025
NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-467_-466insGGCAGC rs1554568913
NM_017780.4(CHD7):c.-469G>A rs868087197
NM_017780.4(CHD7):c.-472G>A rs865775134
NM_017780.4(CHD7):c.-481G>A rs886063024
NM_017780.4(CHD7):c.-490_-488GGC[10] rs886063023
NM_017780.4(CHD7):c.-490_-488GGC[9] rs886063023
NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp) rs886040979
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1029C>T (p.Ser343=) rs570815501
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile) rs199919181
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351
NM_017780.4(CHD7):c.1058del (p.Phe353fs) rs1060503184
NM_017780.4(CHD7):c.1073del (p.Gly358fs) rs886040980
NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe)
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177
NM_017780.4(CHD7):c.1193C>A (p.Pro398His)
NM_017780.4(CHD7):c.1243C>T (p.Pro415Ser)
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter) rs587783428
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=) rs373942842
NM_017780.4(CHD7):c.1294del (p.His432fs) rs1554581646
NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter)
NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter) rs1554581657
NM_017780.4(CHD7):c.1340_1341AG[1] (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.13G>C (p.Gly5Arg) rs886063031
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) rs773039925
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1488dup (p.Pro497fs) rs786204200
NM_017780.4(CHD7):c.1505del (p.Pro502fs) rs863224517
NM_017780.4(CHD7):c.1512A>G (p.Gln504=) rs587783430
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619
NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter) rs1057519423
NM_017780.4(CHD7):c.1554G>C (p.Gln518His)
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.4(CHD7):c.1566C>T (p.Gly522=) rs759347960
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.1622A>G (p.His541Arg)
NM_017780.4(CHD7):c.1657G>T (p.Val553Leu)
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala)
NM_017780.4(CHD7):c.1678dup (p.Glu560fs) rs797045461
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu)
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) rs746633621
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.1737G>A (p.Gln579=) rs747922099
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)
NM_017780.4(CHD7):c.1791_1793GAA[2] (p.Lys602del) rs757119372
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg)
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs) rs1554588671
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys) rs764607908
NM_017780.4(CHD7):c.187_190CAAA[1] (p.Thr64fs) rs587783431
NM_017780.4(CHD7):c.1908G>A (p.Gly636=) rs923306494
NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu)
NM_017780.4(CHD7):c.1925del (p.Lys642fs) rs1554588712
NM_017780.4(CHD7):c.1951_1952delinsT (p.Lys650_Lys651insTer) rs1563595095
NM_017780.4(CHD7):c.1952_1955del (p.Lys651fs) rs1563595101
NM_017780.4(CHD7):c.1977C>T (p.Pro659=) rs886063034
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.4(CHD7):c.202C>T (p.His68Tyr) rs886063032
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr) rs1187193827
NM_017780.4(CHD7):c.2066C>T (p.Thr689Met) rs373706363
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.4(CHD7):c.2090del (p.Lys697fs) rs1563595385
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388
NM_017780.4(CHD7):c.2097-1G>C rs1060503182
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile) rs1563606900
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) rs552946889
NM_017780.4(CHD7):c.2195dup (p.Pro733fs)
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter) rs886040981
NM_017780.4(CHD7):c.2229_2230insCC (p.Gly744fs) rs1563607193
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.4(CHD7):c.2238+12A>G rs752854030
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter)
NM_017780.4(CHD7):c.2295del (p.Phe765fs)
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) rs1331824961
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg)
NM_017780.4(CHD7):c.2376+4A>G rs864622519
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs) rs1563618176
NM_017780.4(CHD7):c.2457G>A (p.Glu819=) rs1060504849
NM_017780.4(CHD7):c.2498+12G>T rs557099951
NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe) rs121434344
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs) rs797045463
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2568del (p.Lys857fs) rs1060503181
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2613+4C>T rs779615403
NM_017780.4(CHD7):c.2614-7G>T rs762399977
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) rs797045465
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter) rs587783433
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366
NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer)
NM_017780.4(CHD7):c.2710dup (p.Tyr904fs)
NM_017780.4(CHD7):c.2726_2728del (p.Cys909del) rs1554597381
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317
NM_017780.4(CHD7):c.2787C>T (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.2820G>A (p.Pro940=) rs539734440
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala) rs370194460
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser) rs587783435
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164
NM_017780.4(CHD7):c.2835+8T>C rs202141372
NM_017780.4(CHD7):c.2836-1G>A
NM_017780.4(CHD7):c.2836-2A>T rs878855031
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542
NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter) rs1554597465
NM_017780.4(CHD7):c.2880G>T (p.Arg960Ser) rs1554597489
NM_017780.4(CHD7):c.2905A>G (p.Arg969Gly) rs1554597501
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959
NM_017780.4(CHD7):c.2986G>A (p.Gly996Ser) rs1554597672
NM_017780.4(CHD7):c.2990del (p.Leu997fs) rs1554597677
NM_017780.4(CHD7):c.29_30del (p.Phe10fs)
NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) rs1206578296
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg)
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val) rs767043440
NM_017780.4(CHD7):c.3071dup (p.Leu1025fs) rs886040984
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr) rs886041167
NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys) rs1060503187
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3201+3A>T rs587783437
NM_017780.4(CHD7):c.3202-3T>G rs1060503183
NM_017780.4(CHD7):c.3202-5T>C rs147994149
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) rs768184220
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) rs768184220
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) rs767259131
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg) rs750214154
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3379-9T>A
NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter) rs1563636399
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter) rs1554599035
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233
NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter) rs1554599065
NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter) rs886040986
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) rs886040987
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs)
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017780.4(CHD7):c.3674dup (p.Asn1225fs) rs886040989
NM_017780.4(CHD7):c.3678del (p.Phe1226fs) rs863224518
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile)
NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter) rs878855032
NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg) rs121434339
NM_017780.4(CHD7):c.3779-10A>G rs886063035
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596
NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter) rs121434342
NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs) rs886040990
NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn) rs864622150
NM_017780.4(CHD7):c.3851C>T (p.Ala1284Val)
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro) rs1563643394
NM_017780.4(CHD7):c.3937del (p.Ser1313fs) rs1554600538
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017780.4(CHD7):c.3964del (p.Leu1322fs) rs879255410
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp) rs369542138
NM_017780.4(CHD7):c.3989G>A (p.Arg1330Gln) rs1060503186
NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer)
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) rs1563644113
NM_017780.4(CHD7):c.4075A>T (p.Arg1359Trp)
NM_017780.4(CHD7):c.4089C>G (p.Leu1363=) rs974334602
NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs)
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4494dup (p.Thr1499fs) rs1563645417
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys) rs1554601592
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer) rs587783443
NM_017780.4(CHD7):c.4639G>C (p.Gly1547Arg) rs1563648680
NM_017780.4(CHD7):c.4645-9T>C rs766575601
NM_017780.4(CHD7):c.4652del (p.Leu1551fs)
NM_017780.4(CHD7):c.4662del (p.Asp1554fs) rs1563648905
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu) rs587783444
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082
NM_017780.4(CHD7):c.478del (p.Tyr160fs) rs1554581198
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) rs367722051
NM_017780.4(CHD7):c.482A>G (p.Gln161Arg) rs755340969
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs) rs886040992
NM_017780.4(CHD7):c.4846T>C (p.Tyr1616His)
NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser) rs886040993
NM_017780.4(CHD7):c.4851T>G (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala) rs372587744
NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer) rs864622455
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.503A>G (p.Gln168Arg)
NM_017780.4(CHD7):c.5051-4C>T rs71640288
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu)
NM_017780.4(CHD7):c.5101del (p.Gln1701fs) rs1554602557
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn)
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=) rs1554602576
NM_017780.4(CHD7):c.5199dup (p.His1734fs) rs863224856
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.5211-11T>G rs886063036
NM_017780.4(CHD7):c.5211-1G>C rs1060503180
NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs) rs886040994
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) rs1554603151
NM_017780.4(CHD7):c.5243T>C (p.Leu1748Pro)
NM_017780.4(CHD7):c.524C>T (p.Ser175Leu) rs370305211
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val)
NM_017780.4(CHD7):c.5271G>A (p.Ala1757=) rs775003129
NM_017780.4(CHD7):c.528dup (p.Pro177fs) rs797045468
NM_017780.4(CHD7):c.5300+8C>T rs151322460
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499
NM_017780.4(CHD7):c.5309A>G (p.Asp1770Gly) rs766488157
NM_017780.4(CHD7):c.532C>G (p.Pro178Ala)
NM_017780.4(CHD7):c.5343T>C (p.Val1781=) rs886063037
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5371G>A (p.Asp1791Asn) rs1554603283
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_017780.4(CHD7):c.5405-13G>A rs1131690787
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-18C>A rs199981784
NM_017780.4(CHD7):c.5405-2A>G rs1131692153
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter) rs121434340
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) rs373869399
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr) rs368609862
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser) rs1563657431
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln) rs372644599
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter) rs587783447
NM_017780.4(CHD7):c.5588C>A (p.Pro1863Gln)
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) rs749861487
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs) rs797045469
NM_017780.4(CHD7):c.5666-2A>C rs587783448
NM_017780.4(CHD7):c.5678_5679AG[3] (p.Ser1894fs) rs1554603818
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317
NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter) rs1131692325
NM_017780.4(CHD7):c.5722A>C (p.Thr1908Pro) rs1329534393
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840
NM_017780.4(CHD7):c.5752dup (p.Thr1918fs) rs786200873
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys) rs768950252
NM_017780.4(CHD7):c.575A>G (p.Tyr192Cys) rs749792505
NM_017780.4(CHD7):c.577A>G (p.Met193Val)
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449
NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp) rs1563659678
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) rs372077201
NM_017780.4(CHD7):c.608A>G (p.His203Arg)
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly)
NM_017780.4(CHD7):c.6103+8C>T rs3763592
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170
NM_017780.4(CHD7):c.6112G>A (p.Asp2038Asn) rs747846723
NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs) rs1131691420
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6161_6162CT[1] (p.Leu2055fs) rs1060503185
NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp) rs886063038
NM_017780.4(CHD7):c.6195C>T (p.Arg2065=)
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter) rs766862122
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr)
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157
NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe) rs561398606
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr) rs766776212
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.6292del (p.Arg2098fs) rs1060499560
NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe) rs753559567
NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp) rs794727555
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676
NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg) rs121434343
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly) rs587783452
NM_017780.4(CHD7):c.6401del (p.Asn2134fs)
NM_017780.4(CHD7):c.6407G>A (p.Gly2136Glu) rs1563660814
NM_017780.4(CHD7):c.6446del (p.Gly2149fs) rs797045470
NM_017780.4(CHD7):c.6469A>G (p.Ile2157Val) rs886063039
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter) rs376056567
NM_017780.4(CHD7):c.6473del (p.Ser2158fs) rs1563660938
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564
NM_017780.4(CHD7):c.6526del (p.Glu2176fs) rs797045471
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.6598G>A (p.Gly2200Arg)
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521
NM_017780.4(CHD7):c.6669C>T (p.Val2223=) rs556577614
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr)
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203
NM_017780.4(CHD7):c.6775+6G>T rs773804340
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228
NM_017780.4(CHD7):c.6793G>A (p.Gly2265Arg)
NM_017780.4(CHD7):c.6825dup (p.Met2276fs) rs797045472
NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs) rs1554604441
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.6888_6889del (p.Ala2297fs) rs1563662791
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6936+6C>T rs762730711
NM_017780.4(CHD7):c.6937-2A>G
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser) rs121434341
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser)
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) rs794727569
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val) rs1184188163
NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu)
NM_017780.4(CHD7):c.702C>G (p.His234Gln)
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp)
NM_017780.4(CHD7):c.7044T>G (p.Gly2348=) rs886063040
NM_017780.4(CHD7):c.7059A>G (p.Thr2353=) rs1271940749
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) rs777753993
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=) rs757280832
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro)
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.7120A>G (p.Ile2374Val)
NM_017780.4(CHD7):c.7123del (p.Ser2375fs) rs1563664506
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter) rs878975068
NM_017780.4(CHD7):c.7165-4A>G rs1554604915
NM_017780.4(CHD7):c.7165-5A>G rs376076407
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu)
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) rs753446252
NM_017780.4(CHD7):c.718del (p.Gln240fs) rs1563560493
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln) rs534510177
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.4(CHD7):c.7222G>T (p.Glu2408Ter)
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter) rs1320897198
NM_017780.4(CHD7):c.7282dup (p.Arg2428fs) rs886040997
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile)
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter) rs1060503188
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727
NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs)
NM_017780.4(CHD7):c.7380_7383TCTT[1] (p.Ser2462fs) rs587783456
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) rs769178123
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala)
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840
NM_017780.4(CHD7):c.7537C>T (p.Arg2513Trp)
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) rs371930390
NM_017780.4(CHD7):c.7570C>T (p.Leu2524=) rs751931671
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.7663del (p.Arg2555fs) rs863224843
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp)
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) rs1554606033
NM_017780.4(CHD7):c.7775T>C (p.Val2592Ala)
NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter)
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter)
NM_017780.4(CHD7):c.7844T>C (p.Val2615Ala)
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906
NM_017780.4(CHD7):c.7866A>C (p.Lys2622Asn)
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs) rs797045473
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7971+1G>T rs1554606274
NM_017780.4(CHD7):c.7971+6C>T
NM_017780.4(CHD7):c.7972-10C>G rs912810188
NM_017780.4(CHD7):c.8015G>A (p.Trp2672Ter) rs1563670964
NM_017780.4(CHD7):c.8034A>G (p.Glu2678=) rs559053565
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter) rs587783459
NM_017780.4(CHD7):c.805G>A (p.Val269Ile)
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_017780.4(CHD7):c.8067del (p.Lys2690fs) rs1554606375
NM_017780.4(CHD7):c.8076+1G>C rs1563671108
NM_017780.4(CHD7):c.8077-1G>C
NM_017780.4(CHD7):c.8077G>C (p.Gly2693Arg) rs1563673201
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.8164A>G (p.Lys2722Glu)
NM_017780.4(CHD7):c.8199T>C (p.Ala2733=) rs878855033
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) rs761409446
NM_017780.4(CHD7):c.8240A>G (p.Asn2747Ser)
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308
NM_017780.4(CHD7):c.8278_8286AATCTCCAG[1] (p.2760_2762NLQ[1]) rs747665912
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) rs376063472
NM_017780.4(CHD7):c.8326C>T (p.Pro2776Ser) rs773045619
NM_017780.4(CHD7):c.8332G>A (p.Gly2778Arg)
NM_017780.4(CHD7):c.8364T>C (p.Asp2788=) rs886063041
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539
NM_017780.4(CHD7):c.8413G>A (p.Gly2805Ser)
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg)
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.8478C>T (p.Asn2826=) rs202076455
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930
NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys) rs1399809223
NM_017780.4(CHD7):c.8549_8555del (p.Asn2850fs) rs1563674316
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=) rs375459176
NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs)
NM_017780.4(CHD7):c.862C>A (p.Gln288Lys) rs1554581399
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_017780.4(CHD7):c.8663T>C (p.Leu2888Pro)
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728
NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs) rs1563674576
NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs) rs886041000
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757
NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) rs1554607313
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val) rs1563674763
NM_017780.4(CHD7):c.8786A>G (p.Asn2929Ser)
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala)
NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser) rs748655442
NM_017780.4(CHD7):c.889C>T (p.Gln297Ter)
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=) rs368038649
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) rs886063033
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) rs771806027
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556
Single allele

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