ClinVar Miner

List of variants reported as pathogenic for CHARGE association

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 404
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2657G>A (p.Arg886Gln) rs1384228127 0.00001
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His) rs1197494895 0.00001
GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1
NC_000008.11:g.(?_60741413)_(60856908_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)del
NC_000011.10:g.61969097_61969098insGA
NG_007009.1:g.138884_149300del
NM_001065.4(TNFRSF1A):c.362_363insTGCAAGACACAG (p.Arg121_Asp122insAlaArgHisArg) rs1592047560
NM_017780.4(CHD7):c.1037_1040del (p.Arg346fs) rs2150579872
NM_017780.4(CHD7):c.1037_1046del (p.Arg346fs)
NM_017780.4(CHD7):c.1058del (p.Phe353fs) rs1060503184
NM_017780.4(CHD7):c.1061del (p.Pro354fs) rs1554581501
NM_017780.4(CHD7):c.1073del (p.Gly358fs) rs886040980
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter) rs727503860
NM_017780.4(CHD7):c.1159C>T (p.Gln387Ter) rs2150580244
NM_017780.4(CHD7):c.1170T>G (p.Tyr390Ter) rs554737227
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter) rs587783428
NM_017780.4(CHD7):c.1250_1259del (p.Ser417fs)
NM_017780.4(CHD7):c.1267del (p.Glu423fs) rs1809110580
NM_017780.4(CHD7):c.1294del (p.His432fs) rs1554581646
NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter) rs1586251038
NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter) rs1554581657
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.1365dup (p.Gln456fs)
NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter) rs727503861
NM_017780.4(CHD7):c.1446dup (p.Val483fs) rs2150581008
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.1513C>T (p.Gln505Ter) rs1554581757
NM_017780.4(CHD7):c.1525C>T (p.Gln509Ter)
NM_017780.4(CHD7):c.1549_1553del (p.Leu517fs)
NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter) rs1057519423
NM_017780.4(CHD7):c.1595del (p.Pro532fs)
NM_017780.4(CHD7):c.1603C>T (p.Gln535Ter) rs751709941
NM_017780.4(CHD7):c.1633C>T (p.Gln545Ter)
NM_017780.4(CHD7):c.1663C>T (p.Gln555Ter)
NM_017780.4(CHD7):c.1678dup (p.Glu560fs) rs797045461
NM_017780.4(CHD7):c.1697del (p.Pro566fs)
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.1774_1778del (p.Gln592fs) rs2150669316
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs) rs1554588671
NM_017780.4(CHD7):c.1808del (p.Asn603fs)
NM_017780.4(CHD7):c.1848del (p.Asp618fs) rs1811207509
NM_017780.4(CHD7):c.1871del (p.Val624fs) rs2150669574
NM_017780.4(CHD7):c.191_194del (p.Thr64fs) rs587783431
NM_017780.4(CHD7):c.1925del (p.Lys642fs) rs1554588712
NM_017780.4(CHD7):c.1931del (p.Lys644fs) rs2150669764
NM_017780.4(CHD7):c.1936dup (p.Arg646fs) rs2150669783
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.1953dup (p.Asp652fs) rs2150669843
NM_017780.4(CHD7):c.1977del (p.Lys660fs) rs2150669944
NM_017780.4(CHD7):c.1984_1985insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAACCCAAGGAGA (p.Lys662fs) rs2150669923
NM_017780.4(CHD7):c.1989dup (p.Glu664fs) rs2150669971
NM_017780.4(CHD7):c.2090del (p.Lys697fs) rs1563595385
NM_017780.4(CHD7):c.2096+1del rs2150670337
NM_017780.4(CHD7):c.2097-1G>C rs1060503182
NM_017780.4(CHD7):c.2097-2A>G rs2150697457
NM_017780.4(CHD7):c.2129del (p.Ala709_Leu710insTer) rs2150697555
NM_017780.4(CHD7):c.2189dup (p.Pro731fs) rs2150697787
NM_017780.4(CHD7):c.2195del (p.Pro732fs) rs1586341138
NM_017780.4(CHD7):c.2195dup (p.Pro733fs) rs1586341138
NM_017780.4(CHD7):c.2196dup (p.Pro733fs) rs2150697832
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.2238+1G>A rs1811957737
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.2239-20_2239-6del rs2150708627
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.2289_2290insT (p.Glu764Ter) rs2150708828
NM_017780.4(CHD7):c.2295del (p.Phe765fs) rs1586350854
NM_017780.4(CHD7):c.2321dup (p.Asp774fs) rs2150708918
NM_017780.4(CHD7):c.232C>T (p.Gln78Ter) rs2150577671
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2442+2449_2498+259del
NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs) rs1563618176
NM_017780.4(CHD7):c.2495del (p.Asn832fs) rs2150723965
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.2503dup (p.Tyr835fs)
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2520G>A (p.Trp840Ter) rs1586379156
NM_017780.4(CHD7):c.2568del (p.Lys857fs) rs1060503181
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.2587C>T (p.Gln863Ter) rs2150739058
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) rs797045465
NM_017780.4(CHD7):c.2643T>A (p.Tyr881Ter)
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter) rs587783433
NM_017780.4(CHD7):c.2684del (p.Asp895fs)
NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer) rs1586389286
NM_017780.4(CHD7):c.2707_2710del (p.His903fs) rs2150748709
NM_017780.4(CHD7):c.2710dup (p.Tyr904fs) rs1586389310
NM_017780.4(CHD7):c.2723G>A (p.Trp908Ter)
NM_017780.4(CHD7):c.2729C>G (p.Ser910Ter) rs1804054410
NM_017780.4(CHD7):c.2767dup (p.Asp923fs) rs1804056309
NM_017780.4(CHD7):c.2805_2806insTT (p.Met936fs) rs2150748939
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.281del (p.Pro94fs) rs1809027236
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.2836-1G>A rs1586389929
NM_017780.4(CHD7):c.2836-2A>T rs878855031
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter) rs1554597465
NM_017780.4(CHD7):c.2872_2873del (p.Ser958fs)
NM_017780.4(CHD7):c.2881del (p.Glu961fs) rs2150749363
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_017780.4(CHD7):c.2908G>T (p.Glu970Ter)
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer) rs1586390136
NM_017780.4(CHD7):c.2930del (p.Asn977fs)
NM_017780.4(CHD7):c.2948G>A (p.Trp983Ter)
NM_017780.4(CHD7):c.2949G>A (p.Trp983Ter)
NM_017780.4(CHD7):c.2957+2T>C rs2150749475
NM_017780.4(CHD7):c.2957+5G>A rs1586390236
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.2990del (p.Leu997fs) rs1554597677
NM_017780.4(CHD7):c.29_30del (p.Phe10fs) rs1586247124
NM_017780.4(CHD7):c.3039del (p.Gly1014fs) rs2150750228
NM_017780.4(CHD7):c.3071dup (p.Leu1025fs) rs886040984
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3089A>G (p.Asn1030Ser) rs886041167
NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys) rs1060503187
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3166del (p.Ile1056fs)
NM_017780.4(CHD7):c.3202-3T>G rs1060503183
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.328_329insGGAGG (p.Val110fs)
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.3309_3310del (p.Val1103_Ile1104insTer) rs2150752540
NM_017780.4(CHD7):c.3320_3333dup (p.Asn1112delinsProThrGlyTer)
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
NM_017780.4(CHD7):c.3367_3368dup (p.Met1123fs) rs1804158472
NM_017780.4(CHD7):c.3369dup (p.Met1124fs)
NM_017780.4(CHD7):c.3378+5G>C rs1554598029
NM_017780.4(CHD7):c.3378G>C (p.Leu1126Phe)
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter) rs1563636399
NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter) rs1554599035
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs) rs2150761158
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
NM_017780.4(CHD7):c.3470del (p.Pro1157fs) rs1804367478
NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter) rs1554599065
NM_017780.4(CHD7):c.3514_3515del (p.Glu1172fs) rs1804369315
NM_017780.4(CHD7):c.3522+1G>A rs1804369859
NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter) rs886040986
NM_017780.4(CHD7):c.356_359dup (p.Gly121fs) rs2150578004
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) rs886040987
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs) rs1586405367
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.3641A>C (p.Gln1214Pro) rs1804454889
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.3695_3710dup (p.Asn1237delinsLysArgTrpSerSerTer) rs2150764898
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.3811G>T (p.Glu1271Ter) rs121434342
NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs) rs886040990
NM_017780.4(CHD7):c.3840del (p.Gln1281fs)
NM_017780.4(CHD7):c.3847C>T (p.Gln1283Ter)
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.3964del (p.Leu1322fs) rs879255410
NM_017780.4(CHD7):c.398_401del (p.Arg133fs)
NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer) rs1586417729
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.406C>T (p.Gln136Ter)
NM_017780.4(CHD7):c.4185+1G>A rs1586418093
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs) rs1804800490
NM_017780.4(CHD7):c.4216_4217del (p.Ser1406fs)
NM_017780.4(CHD7):c.4236C>G (p.Tyr1412Ter)
NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs) rs1586419497
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4353+1G>T rs1804804514
NM_017780.4(CHD7):c.4354-1G>A rs2150779252
NM_017780.4(CHD7):c.4360C>T (p.Gln1454Ter) rs2150779267
NM_017780.4(CHD7):c.4375G>T (p.Glu1459Ter)
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs) rs398124319
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.4424del (p.Glu1475fs) rs1804819972
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4494dup (p.Thr1499fs) rs1563645417
NM_017780.4(CHD7):c.4515dup (p.Gly1506fs)
NM_017780.4(CHD7):c.4533+1G>A rs1586420419
NM_017780.4(CHD7):c.4542del (p.Phe1514fs) rs2150785999
NM_017780.4(CHD7):c.4627dup (p.Asp1543fs) rs2150786214
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer) rs587783443
NM_017780.4(CHD7):c.463C>T (p.Gln155Ter) rs1809042353
NM_017780.4(CHD7):c.4645-1G>A
NM_017780.4(CHD7):c.4652del (p.Leu1551fs) rs1586426486
NM_017780.4(CHD7):c.4662del (p.Asp1554fs) rs1563648905
NM_017780.4(CHD7):c.4667dup (p.Arg1557fs) rs2150786530
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4738G>T (p.Glu1580Ter) rs1804993220
NM_017780.4(CHD7):c.4747del (p.Ser1583fs)
NM_017780.4(CHD7):c.4757del (p.Lys1586fs)
NM_017780.4(CHD7):c.4783C>T (p.Gln1595Ter)
NM_017780.4(CHD7):c.478del (p.Tyr160fs) rs1554581198
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_017780.4(CHD7):c.480C>A (p.Tyr160Ter)
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs) rs886040992
NM_017780.4(CHD7):c.4850+1G>A
NM_017780.4(CHD7):c.487C>T (p.Gln163Ter)
NM_017780.4(CHD7):c.4888del (p.Tyr1630fs) rs2150792975
NM_017780.4(CHD7):c.4906G>T (p.Glu1636Ter) rs2150793053
NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer) rs864622455
NM_017780.4(CHD7):c.4933del (p.Thr1645fs) rs2150793143
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
NM_017780.4(CHD7):c.4944_4945del (p.Tyr1649fs) rs1805142029
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter) rs777652245
NM_017780.4(CHD7):c.5050+1G>C rs1554602466
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) rs1554602465
NM_017780.4(CHD7):c.5051-1G>A rs1586432203
NM_017780.4(CHD7):c.5101C>T (p.Gln1701Ter)
NM_017780.4(CHD7):c.5101del (p.Gln1701fs) rs1554602557
NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter) rs1805157634
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter) rs1563560018
NM_017780.4(CHD7):c.5167del (p.Gln1723fs) rs797044919
NM_017780.4(CHD7):c.5199dup (p.His1734fs) rs863224856
NM_017780.4(CHD7):c.519del (p.Pro174fs) rs1809050272
NM_017780.4(CHD7):c.5202del (p.Cys1735fs)
NM_017780.4(CHD7):c.5209A>T (p.Lys1737Ter)
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.5211-1G>C rs1060503180
NM_017780.4(CHD7):c.5211-2A>G rs1805310365
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.5241C>A (p.Tyr1747Ter)
NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer)
NM_017780.4(CHD7):c.528dup (p.Pro177fs) rs797045468
NM_017780.4(CHD7):c.5300+1G>A
NM_017780.4(CHD7):c.5330del (p.Phe1777fs) rs1805335711
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter) rs1805338299
NM_017780.4(CHD7):c.538C>T (p.Gln180Ter) rs1563560149
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.5414_5422dup (p.Ser1808Ter) rs2150804625
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.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5547_5550del (p.Asp1849fs) rs2150805748
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter) rs587783447
NM_017780.4(CHD7):c.557_558dup (p.Gln187fs) rs1809054571
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs) rs797045469
NM_017780.4(CHD7):c.5655del (p.His1886fs)
NM_017780.4(CHD7):c.5665+1dup rs2150806303
NM_017780.4(CHD7):c.5666-2A>C rs587783448
NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs) rs1554603818
NM_017780.4(CHD7):c.5689G>T (p.Glu1897Ter)
NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter) rs1131692325
NM_017780.4(CHD7):c.5708G>A (p.Trp1903Ter)
NM_017780.4(CHD7):c.5752dup (p.Thr1918fs) rs786200873
NM_017780.4(CHD7):c.5782C>T (p.Gln1928Ter)
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.5879_5880del (p.Ile1959_Ser1960insTer) rs2150808082
NM_017780.4(CHD7):c.5895-2A>T rs2150808631
NM_017780.4(CHD7):c.5897G>A (p.Trp1966Ter)
NM_017780.4(CHD7):c.5898G>A (p.Trp1966Ter) rs2150808654
NM_017780.4(CHD7):c.5909_5910insTC (p.Glu1970fs) rs2150808678
NM_017780.4(CHD7):c.5912del (p.Glu1971fs) rs2150808685
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs) rs1586444410
NM_017780.4(CHD7):c.5932del (p.Val1978fs) rs1805501026
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter) rs1554603970
NM_017780.4(CHD7):c.6045del (p.Phe2015fs)
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.6114_6120del (p.Leu2039fs) rs1131691420
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.6163_6164del (p.Leu2055fs) rs1060503185
NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs) rs886039528
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter) rs766862122
NM_017780.4(CHD7):c.619C>T (p.Gln207Ter)
NM_017780.4(CHD7):c.6217C>T (p.Gln2073Ter) rs2150809777
NM_017780.4(CHD7):c.6242del (p.Cys2081fs)
NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter) rs1805529214
NM_017780.4(CHD7):c.6273G>T (p.Trp2091Cys) rs2150809927
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.6322G>A (p.Gly2108Arg) rs121434343
NM_017780.4(CHD7):c.6341_6358dup (p.Asp2119_Pro2120insHisHisIleLeuAsnAsp) rs1805535866
NM_017780.4(CHD7):c.634C>T (p.Gln212Ter) rs2150578792
NM_017780.4(CHD7):c.635del (p.Gln212fs) rs1586249038
NM_017780.4(CHD7):c.6401del (p.Asn2134fs) rs1586446101
NM_017780.4(CHD7):c.643C>T (p.Gln215Ter) rs2150578812
NM_017780.4(CHD7):c.6446del (p.Gly2149fs) rs797045470
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter) rs376056567
NM_017780.4(CHD7):c.6473del (p.Ser2158fs) rs1563660938
NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs)
NM_017780.4(CHD7):c.6526del (p.Glu2176fs) rs797045471
NM_017780.4(CHD7):c.6531dup (p.Pro2178fs) rs2150810800
NM_017780.4(CHD7):c.6641_6642del (p.Val2214fs) rs2150811163
NM_017780.4(CHD7):c.667G>T (p.Gly223Ter) rs1809060881
NM_017780.4(CHD7):c.6730_6733dup (p.Leu2245fs) rs2150811416
NM_017780.4(CHD7):c.6737dup (p.Asp2247fs) rs2150811446
NM_017780.4(CHD7):c.6775+1G>A rs1805573066
NM_017780.4(CHD7):c.6775+1G>T rs1805573066
NM_017780.4(CHD7):c.6817_6818del (p.Asn2273fs) rs1805613575
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.689C>A (p.Ser230Ter) rs1809062715
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.6937-2A>G rs1586451506
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.6995G>A (p.Trp2332Ter) rs794727569
NM_017780.4(CHD7):c.7078A>T (p.Lys2360Ter) rs1805694320
NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter) rs878975068
NM_017780.4(CHD7):c.7160C>G (p.Ser2387Ter) rs2129644242
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017780.4(CHD7):c.7165-4A>G rs1554604915
NM_017780.4(CHD7):c.7184_7185del (p.Ser2395fs) rs1586452701
NM_017780.4(CHD7):c.718del (p.Gln240fs) rs1563560493
NM_017780.4(CHD7):c.7222G>T (p.Glu2408Ter) rs1341064149
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter) rs1586452965
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7258del (p.Leu2420fs)
NM_017780.4(CHD7):c.7262del (p.Met2421fs)
NM_017780.4(CHD7):c.7276del (p.Gln2426fs) rs1805723571
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.7286_7287del (p.Glu2429fs) rs1805724910
NM_017780.4(CHD7):c.7297del (p.Val2433fs) rs1064793972
NM_017780.4(CHD7):c.7301C>G (p.Ser2434Ter)
NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter) rs1060503188
NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs) rs1586453267
NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs) rs1586453329
NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs) rs587783456
NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs) rs1586453824
NM_017780.4(CHD7):c.7585del (p.His2529fs) rs2129653634
NM_017780.4(CHD7):c.7663del (p.Arg2555fs) rs863224843
NM_017780.4(CHD7):c.7681G>T (p.Gly2561Ter) rs774255090
NM_017780.4(CHD7):c.7684C>T (p.Gln2562Ter) rs1563669203
NM_017780.4(CHD7):c.7710del (p.Val2571fs) rs2129704530
NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs)
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) rs1554606033
NM_017780.4(CHD7):c.7776del (p.Glu2593fs)
NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter) rs748126701
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.7803C>A (p.Tyr2601Ter) rs1563669432
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) rs1563669432
NM_017780.4(CHD7):c.7824T>A (p.Tyr2608Ter)
NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter) rs1586460329
NM_017780.4(CHD7):c.7840_7841dup (p.Asp2614fs)
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.7913_7914del (p.Ile2638fs)
NM_017780.4(CHD7):c.7930_7934del (p.Glu2644fs)
NM_017780.4(CHD7):c.7936dup (p.Arg2646fs) rs2129721609
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs) rs797045473
NM_017780.4(CHD7):c.7956del (p.Lys2652fs) rs2129721740
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7967del (p.Lys2656fs) rs2129721927
NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs) rs1806048148
NM_017780.4(CHD7):c.8015G>A (p.Trp2672Ter) rs1563670964
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264
NM_017780.4(CHD7):c.8049del (p.Asp2684fs) rs1586463029
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter) rs587783459
NM_017780.4(CHD7):c.8064del (p.Ile2688fs) rs2129726316
NM_017780.4(CHD7):c.8067del (p.Lys2690fs) rs1554606375
NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs) rs1806054045
NM_017780.4(CHD7):c.8076+1G>C rs1563671108
NM_017780.4(CHD7):c.8077-1G>C rs1586466948
NM_017780.4(CHD7):c.8077-2A>G rs1806173195
NM_017780.4(CHD7):c.807del (p.Ala270fs) rs1586249559
NM_017780.4(CHD7):c.8105dup (p.Leu2703fs)
NM_017780.4(CHD7):c.8360del (p.Gly2787fs) rs2129761877
NM_017780.4(CHD7):c.8416del (p.Leu2806fs)
NM_017780.4(CHD7):c.841C>T (p.Gln281Ter) rs2150579361
NM_017780.4(CHD7):c.8456del (p.Pro2819fs) rs2129764240
NM_017780.4(CHD7):c.8549_8555del (p.Asn2850fs) rs1563674316
NM_017780.4(CHD7):c.8570_8571del (p.Asp2856_Ser2857insTer)
NM_017780.4(CHD7):c.8606_8607del (p.Ser2869fs)
NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs) rs1586468521
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.8744dup (p.Leu2916fs) rs1554607313
NM_017780.4(CHD7):c.889C>T (p.Gln297Ter) rs1586249808
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_017780.4(CHD7):c.91G>T (p.Glu31Ter)
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
NM_017780.4(CHD7):c.927_928del (p.Tyr310fs)
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166

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