ClinVar Miner

List of variants in gene CHD7 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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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
NC_000008.11:g.(?_60741413)_(60856908_?)dup
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.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.1250_1259del (p.Ser417fs)
NM_017780.4(CHD7):c.1267del (p.Glu423fs) rs1809110580
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.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.1525C>T (p.Gln509Ter)
NM_017780.4(CHD7):c.1549_1553del (p.Leu517fs)
NM_017780.4(CHD7):c.1595del (p.Pro532fs)
NM_017780.4(CHD7):c.1633C>T (p.Gln545Ter)
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.2229_2230insCC (p.Gly744fs) rs1563607193
NM_017780.4(CHD7):c.2238+1G>A rs1811957737
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
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.2452_2462del (p.Gly818fs) rs1563618176
NM_017780.4(CHD7):c.2495del (p.Asn832fs) rs2150723965
NM_017780.4(CHD7):c.2503dup (p.Tyr835fs)
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.2643T>A (p.Tyr881Ter)
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.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.2872_2873del (p.Ser958fs)
NM_017780.4(CHD7):c.2908G>T (p.Glu970Ter)
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.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.29_30del (p.Phe10fs) rs1586247124
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.3202-3T>G rs1060503183
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.328_329insGGAGG (p.Val110fs)
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.3320_3333dup (p.Asn1112delinsProThrGlyTer)
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.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.356_359dup (p.Gly121fs) rs2150578004
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs) rs1586405367
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.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.3840del (p.Gln1281fs)
NM_017780.4(CHD7):c.3847C>T (p.Gln1283Ter)
NM_017780.4(CHD7):c.3937del (p.Ser1313fs) rs1554600538
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.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.4542del (p.Phe1514fs) rs2150785999
NM_017780.4(CHD7):c.4627dup (p.Asp1543fs) rs2150786214
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.478del (p.Tyr160fs) rs1554581198
NM_017780.4(CHD7):c.480C>A (p.Tyr160Ter)
NM_017780.4(CHD7):c.4850+1G>A
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.4944_4945del (p.Tyr1649fs) rs1805142029
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter) rs777652245
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) rs1554602465
NM_017780.4(CHD7):c.5101del (p.Gln1701fs) rs1554602557
NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter) rs1805157634
NM_017780.4(CHD7):c.5167del (p.Gln1723fs) rs797044919
NM_017780.4(CHD7):c.5209A>T (p.Lys1737Ter)
NM_017780.4(CHD7):c.5211-1G>C rs1060503180
NM_017780.4(CHD7):c.5211-2A>G rs1805310365
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) rs1554603151
NM_017780.4(CHD7):c.5241C>A (p.Tyr1747Ter)
NM_017780.4(CHD7):c.5330del (p.Phe1777fs) rs1805335711
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter) rs1805338299
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5414_5422dup (p.Ser1808Ter) rs2150804625
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.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5655del (p.His1886fs)
NM_017780.4(CHD7):c.5665+1dup rs2150806303
NM_017780.4(CHD7):c.5689G>T (p.Glu1897Ter)
NM_017780.4(CHD7):c.5708G>A (p.Trp1903Ter)
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
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.5932del (p.Val1978fs) rs1805501026
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.6242del (p.Cys2081fs)
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.634C>T (p.Gln212Ter) rs2150578792
NM_017780.4(CHD7):c.6401del (p.Asn2134fs) rs1586446101
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter) rs376056567
NM_017780.4(CHD7):c.6473del (p.Ser2158fs) rs1563660938
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.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.6937-2A>G rs1586451506
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
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.718del (p.Gln240fs) rs1563560493
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.7282C>T (p.Arg2428Ter) rs1320897198
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.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.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.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.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.7956del (p.Lys2652fs) rs2129721740
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs) rs1806048148
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264
NM_017780.4(CHD7):c.8049del (p.Asp2684fs) rs1586463029
NM_017780.4(CHD7):c.8067del (p.Lys2690fs) rs1554606375
NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs) rs1806054045
NM_017780.4(CHD7):c.8077-1G>C rs1586466948
NM_017780.4(CHD7):c.8077-2A>G rs1806173195
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.8549_8555del (p.Asn2850fs) rs1563674316
NM_017780.4(CHD7):c.8570_8571del (p.Asp2856_Ser2857insTer)
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.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.927_928del (p.Tyr310fs)
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166

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