ClinVar Miner

List of variants in gene CHD8 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 485
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.3715-235C>A rs79467620 0.01586
NM_001170629.2(CHD8):c.-215-291T>C rs116196747 0.01381
NM_001170629.2(CHD8):c.4371-27A>T rs17792647 0.01288
NM_001170629.2(CHD8):c.1717-29A>C rs75322473 0.01034
NM_001170629.2(CHD8):c.3307+86T>C rs116904182 0.01023
NM_001170629.2(CHD8):c.1437C>T (p.Asn479=) rs61744173 0.00897
NM_001170629.2(CHD8):c.2364+130A>G rs75816325 0.00794
NM_001170629.2(CHD8):c.3518+75A>C rs149897511 0.00779
NM_001170629.2(CHD8):c.4174-128A>G rs116406114 0.00756
NM_001170629.2(CHD8):c.2730+106A>G rs115057140 0.00744
NM_001170629.2(CHD8):c.1602-166del rs145753993 0.00639
NM_001170629.2(CHD8):c.2373G>A (p.Pro791=) rs61752838 0.00607
NM_001170629.2(CHD8):c.4371-51_4371-50del rs377119444 0.00601
NM_001170629.2(CHD8):c.1602-54A>G rs150488216 0.00591
NM_001170629.2(CHD8):c.2907+121G>T rs57687361 0.00588
NM_001170629.2(CHD8):c.7183-155T>A rs114865139 0.00580
NM_001170629.2(CHD8):c.1843C>T (p.Pro615Ser) rs61744458 0.00579
NM_001170629.2(CHD8):c.5391-41G>T rs114552100 0.00554
NM_001170629.2(CHD8):c.5121T>C (p.Asp1707=) rs61729945 0.00441
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413 0.00436
NM_001170629.2(CHD8):c.2907+265T>C rs559569308 0.00420
NM_001170629.2(CHD8):c.1822A>G (p.Ile608Val) rs200056646 0.00371
NM_001170629.2(CHD8):c.2730+54C>T rs185649994 0.00370
NM_001170629.2(CHD8):c.5391-33_5391-31del rs538923023 0.00358
NM_001170629.2(CHD8):c.2907+58G>A rs181670352 0.00328
NM_001170629.2(CHD8):c.3308-257C>T rs56697268 0.00312
NM_001170629.2(CHD8):c.7183-64G>A rs141744282 0.00303
NM_001170629.2(CHD8):c.6571T>C (p.Leu2191=) rs61741241 0.00297
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_001170629.2(CHD8):c.*148C>T rs538945835 0.00244
NM_001170629.2(CHD8):c.2487-15A>G rs374458289 0.00104
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929 0.00101
NM_001170629.2(CHD8):c.4921+7A>G rs375587003 0.00100
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00096
NM_001170629.2(CHD8):c.5391-22T>C rs77562111 0.00096
NM_001170629.2(CHD8):c.5195A>G (p.Gln1732Arg) rs201074234 0.00091
NM_001170629.2(CHD8):c.2362G>A (p.Val788Met) rs191366877 0.00088
NM_001170629.2(CHD8):c.7203G>A (p.Val2401=) rs181239271 0.00084
NM_001170629.2(CHD8):c.3519-48C>T rs150706384 0.00078
NM_001170629.2(CHD8):c.1968+26A>T rs373145325 0.00075
NM_001170629.2(CHD8):c.3882+6T>C rs373037739 0.00059
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090 0.00058
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463 0.00057
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001170629.2(CHD8):c.2907+46G>A rs370847692 0.00045
NM_001170629.2(CHD8):c.7472T>C (p.Met2491Thr) rs551653039 0.00041
NM_001170629.2(CHD8):c.3714+4A>G rs191258109 0.00039
NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=) rs61752836 0.00037
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu) rs199879706 0.00036
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001170629.2(CHD8):c.5817C>T (p.Arg1939=) rs140310602 0.00029
NM_001170629.2(CHD8):c.1215+14A>C rs368399589 0.00024
NM_001170629.2(CHD8):c.7431G>A (p.Met2477Ile) rs375405457 0.00024
NM_001170629.2(CHD8):c.1601+29C>T rs375282372 0.00022
NM_001170629.2(CHD8):c.5483G>A (p.Arg1828His) rs199908540 0.00022
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989 0.00019
NM_001170629.2(CHD8):c.4752A>G (p.Leu1584=) rs61756311 0.00019
NM_001170629.2(CHD8):c.6340C>T (p.Leu2114Phe) rs200566427 0.00019
NM_001170629.2(CHD8):c.7297A>G (p.Met2433Val) rs376775890 0.00017
NM_001170629.2(CHD8):c.1080G>A (p.Ser360=) rs769647344 0.00016
NM_001170629.2(CHD8):c.5665C>T (p.Arg1889Cys) rs201802014 0.00016
NM_001170629.2(CHD8):c.4570+14C>T rs537282522 0.00014
NM_001170629.2(CHD8):c.5683C>T (p.Arg1895Cys) rs200514547 0.00013
NM_001170629.2(CHD8):c.6402T>C (p.Asp2134=) rs371884365 0.00011
NM_001170629.2(CHD8):c.363A>G (p.Gln121=) rs769622502 0.00010
NM_001170629.2(CHD8):c.5214C>T (p.Phe1738=) rs532921100 0.00010
NM_001170629.2(CHD8):c.1473C>T (p.Ser491=) rs373467208 0.00009
NM_001170629.2(CHD8):c.3519-12A>G rs748585964 0.00009
NM_001170629.2(CHD8):c.4410C>T (p.Phe1470=) rs373148846 0.00009
NM_001170629.2(CHD8):c.5607C>T (p.Pro1869=) rs537080482 0.00009
NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu) rs374435577 0.00009
NM_001170629.2(CHD8):c.398A>G (p.Asn133Ser) rs753610507 0.00008
NM_001170629.2(CHD8):c.5662T>C (p.Tyr1888His) rs373607095 0.00008
NM_001170629.2(CHD8):c.4896G>A (p.Ser1632=) rs151289731 0.00006
NM_001170629.2(CHD8):c.5265G>A (p.Ala1755=) rs374201033 0.00006
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His) rs745375504 0.00006
NM_001170629.2(CHD8):c.2318G>A (p.Arg773Gln) rs763874660 0.00005
NM_001170629.2(CHD8):c.315A>G (p.Pro105=) rs759477487 0.00005
NM_001170629.2(CHD8):c.4418G>A (p.Arg1473His) rs779590262 0.00005
NM_001170629.2(CHD8):c.844-160A>T rs757082935 0.00005
NM_001170629.2(CHD8):c.338C>T (p.Ser113Leu) rs530700201 0.00004
NM_001170629.2(CHD8):c.4817+14A>G rs754410131 0.00004
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn) rs376095447 0.00004
NM_001170629.2(CHD8):c.6539G>A (p.Arg2180His) rs778904376 0.00004
NM_001170629.2(CHD8):c.7569C>A (p.Thr2523=) rs376217321 0.00004
NM_001170629.2(CHD8):c.7675A>G (p.Arg2559Gly) rs563339561 0.00004
NM_001170629.2(CHD8):c.1842C>G (p.Leu614=) rs376100482 0.00003
NM_001170629.2(CHD8):c.2655C>T (p.Asn885=) rs371541713 0.00003
NM_001170629.2(CHD8):c.3126A>G (p.Ala1042=) rs773109422 0.00003
NM_001170629.2(CHD8):c.4174-10C>G rs775511122 0.00003
NM_001170629.2(CHD8):c.5070T>C (p.Asp1690=) rs369235291 0.00003
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271 0.00003
NM_001170629.2(CHD8):c.5816G>A (p.Arg1939His) rs751815253 0.00003
NM_001170629.2(CHD8):c.6405A>G (p.Gly2135=) rs745467579 0.00003
NM_001170629.2(CHD8):c.667G>C (p.Val223Leu) rs369329090 0.00003
NM_001170629.2(CHD8):c.7490A>C (p.His2497Pro) rs866434305 0.00003
NM_001170629.2(CHD8):c.7493A>C (p.His2498Pro) rs1174920611 0.00003
NM_001170629.2(CHD8):c.1320G>A (p.Ser440=) rs898418482 0.00002
NM_001170629.2(CHD8):c.181T>C (p.Ser61Pro) rs1064795811 0.00002
NM_001170629.2(CHD8):c.2016C>T (p.Tyr672=) rs992446349 0.00002
NM_001170629.2(CHD8):c.2229C>T (p.Pro743=) rs766074272 0.00002
NM_001170629.2(CHD8):c.3396C>T (p.Ala1132=) rs200180762 0.00002
NM_001170629.2(CHD8):c.3966C>T (p.Gly1322=) rs1171603040 0.00002
NM_001170629.2(CHD8):c.400C>T (p.Pro134Ser) rs763843295 0.00002
NM_001170629.2(CHD8):c.5820T>C (p.His1940=) rs750311902 0.00002
NM_001170629.2(CHD8):c.5909C>G (p.Ala1970Gly) rs770184277 0.00002
NM_001170629.2(CHD8):c.852G>A (p.Ser284=) rs765203840 0.00002
NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu) rs746163664 0.00001
NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr) rs565918098 0.00001
NM_001170629.2(CHD8):c.1351A>G (p.Arg451Gly) rs1435998081 0.00001
NM_001170629.2(CHD8):c.1491A>G (p.Glu497=) rs767511854 0.00001
NM_001170629.2(CHD8):c.1755T>C (p.Tyr585=) rs1057275346 0.00001
NM_001170629.2(CHD8):c.4851A>G (p.Gln1617=) rs764738563 0.00001
NM_001170629.2(CHD8):c.489G>A (p.Lys163=) rs746419088 0.00001
NM_001170629.2(CHD8):c.5052-14C>T rs772535596 0.00001
NM_001170629.2(CHD8):c.5141T>C (p.Met1714Thr) rs369748510 0.00001
NM_001170629.2(CHD8):c.5390+6A>G rs778452195 0.00001
NM_001170629.2(CHD8):c.545G>A (p.Gly182Asp) rs752375264 0.00001
NM_001170629.2(CHD8):c.5790T>C (p.Asp1930=) rs778154578 0.00001
NM_001170629.2(CHD8):c.6248C>T (p.Ser2083Phe) rs545239905 0.00001
NM_001170629.2(CHD8):c.689G>A (p.Gly230Glu) rs377106650 0.00001
NM_001170629.2(CHD8):c.7248G>A (p.Lys2416=) rs377600590 0.00001
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln) rs573063062 0.00001
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys) rs371294659 0.00001
NM_001170629.2(CHD8):c.7338G>A (p.Thr2446=) rs746978340 0.00001
NM_001170629.2(CHD8):c.-5C>T
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met) rs753886912
NM_001170629.2(CHD8):c.1032G>A (p.Val344=)
NM_001170629.2(CHD8):c.1074A>G (p.Pro358=)
NM_001170629.2(CHD8):c.1107C>T (p.Ser369=) rs1418170692
NM_001170629.2(CHD8):c.1167C>T (p.Ser389=)
NM_001170629.2(CHD8):c.1170A>G (p.Pro390=)
NM_001170629.2(CHD8):c.1176A>G (p.Gln392=)
NM_001170629.2(CHD8):c.1203A>G (p.Val401=)
NM_001170629.2(CHD8):c.1215+10T>C
NM_001170629.2(CHD8):c.1215+13C>A
NM_001170629.2(CHD8):c.1215+14A>G
NM_001170629.2(CHD8):c.1215+15T>C
NM_001170629.2(CHD8):c.1216-14C>T
NM_001170629.2(CHD8):c.1216-6C>T
NM_001170629.2(CHD8):c.1219G>A (p.Gly407Ser)
NM_001170629.2(CHD8):c.1234G>A (p.Ala412Thr)
NM_001170629.2(CHD8):c.1257T>G (p.Val419=)
NM_001170629.2(CHD8):c.1263T>A (p.Val421=)
NM_001170629.2(CHD8):c.1266G>A (p.Leu422=)
NM_001170629.2(CHD8):c.1272C>T (p.Ala424=)
NM_001170629.2(CHD8):c.1299A>C (p.Pro433=)
NM_001170629.2(CHD8):c.1320G>C (p.Ser440=)
NM_001170629.2(CHD8):c.1354T>C (p.Leu452=)
NM_001170629.2(CHD8):c.1377G>A (p.Glu459=)
NM_001170629.2(CHD8):c.1387C>A (p.Arg463=)
NM_001170629.2(CHD8):c.1410G>A (p.Ala470=)
NM_001170629.2(CHD8):c.1425C>T (p.Arg475=)
NM_001170629.2(CHD8):c.1459G>A (p.Asp487Asn)
NM_001170629.2(CHD8):c.1505G>A (p.Arg502His)
NM_001170629.2(CHD8):c.152A>G (p.Gln51Arg)
NM_001170629.2(CHD8):c.1572C>T (p.Ala524=)
NM_001170629.2(CHD8):c.159T>C (p.Gly53=)
NM_001170629.2(CHD8):c.1601+11C>T
NM_001170629.2(CHD8):c.1601+14G>A
NM_001170629.2(CHD8):c.1601+16dup
NM_001170629.2(CHD8):c.1608C>T (p.Ile536=)
NM_001170629.2(CHD8):c.1643C>A (p.Thr548Asn)
NM_001170629.2(CHD8):c.1690C>A (p.Arg564=)
NM_001170629.2(CHD8):c.1691G>A (p.Arg564Gln)
NM_001170629.2(CHD8):c.1716+10T>C
NM_001170629.2(CHD8):c.1716+18G>T
NM_001170629.2(CHD8):c.1717-6C>A
NM_001170629.2(CHD8):c.1717-6C>G
NM_001170629.2(CHD8):c.1717-8C>G
NM_001170629.2(CHD8):c.1717-9G>C
NM_001170629.2(CHD8):c.1725C>T (p.Arg575=)
NM_001170629.2(CHD8):c.1767G>A (p.Leu589=)
NM_001170629.2(CHD8):c.177G>T (p.Gly59=)
NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del) rs757502536
NM_001170629.2(CHD8):c.1842C>T (p.Leu614=)
NM_001170629.2(CHD8):c.1890G>A (p.Gln630=)
NM_001170629.2(CHD8):c.1899+17_1899+18del
NM_001170629.2(CHD8):c.1899+19T>A
NM_001170629.2(CHD8):c.1899+8G>A
NM_001170629.2(CHD8):c.1900-11T>G
NM_001170629.2(CHD8):c.1900-18C>T
NM_001170629.2(CHD8):c.1900-19A>G
NM_001170629.2(CHD8):c.1900-8T>C
NM_001170629.2(CHD8):c.1968+14A>T
NM_001170629.2(CHD8):c.1968+249T>C rs59961991
NM_001170629.2(CHD8):c.1974T>G (p.Pro658=)
NM_001170629.2(CHD8):c.2010C>G (p.Val670=)
NM_001170629.2(CHD8):c.2025-11A>G
NM_001170629.2(CHD8):c.2025-19A>G
NM_001170629.2(CHD8):c.2025-6C>T
NM_001170629.2(CHD8):c.2025-72C>G rs17792659
NM_001170629.2(CHD8):c.2028C>T (p.Ser676=)
NM_001170629.2(CHD8):c.2052T>C (p.Thr684=)
NM_001170629.2(CHD8):c.2103C>T (p.Phe701=)
NM_001170629.2(CHD8):c.2142+14G>A
NM_001170629.2(CHD8):c.2143-18G>A
NM_001170629.2(CHD8):c.2196G>A (p.Glu732=)
NM_001170629.2(CHD8):c.2226+13G>A
NM_001170629.2(CHD8):c.2227-11T>C
NM_001170629.2(CHD8):c.2241C>T (p.Tyr747=)
NM_001170629.2(CHD8):c.2259T>C (p.Ser753=)
NM_001170629.2(CHD8):c.228A>G (p.Thr76=)
NM_001170629.2(CHD8):c.2334T>C (p.Ile778=)
NM_001170629.2(CHD8):c.2346C>T (p.His782=)
NM_001170629.2(CHD8):c.2365-15C>T
NM_001170629.2(CHD8):c.2373G>T (p.Pro791=)
NM_001170629.2(CHD8):c.2403A>G (p.Leu801=)
NM_001170629.2(CHD8):c.2439A>G (p.Glu813=)
NM_001170629.2(CHD8):c.2486+17G>T
NM_001170629.2(CHD8):c.2486+19C>T
NM_001170629.2(CHD8):c.2487-16dup
NM_001170629.2(CHD8):c.2487-19T>C
NM_001170629.2(CHD8):c.2487-19del rs111776414
NM_001170629.2(CHD8):c.2487-28_2487-27dup rs111776414
NM_001170629.2(CHD8):c.2493C>T (p.Asn831=)
NM_001170629.2(CHD8):c.2637T>C (p.Asn879=)
NM_001170629.2(CHD8):c.2640A>G (p.Thr880=)
NM_001170629.2(CHD8):c.2646A>C (p.Thr882=)
NM_001170629.2(CHD8):c.2670T>C (p.His890=)
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=) rs1369694963
NM_001170629.2(CHD8):c.2703G>A (p.Gln901=)
NM_001170629.2(CHD8):c.2730+19G>A
NM_001170629.2(CHD8):c.2745A>G (p.Pro915=)
NM_001170629.2(CHD8):c.2766T>C (p.Ala922=)
NM_001170629.2(CHD8):c.2805T>C (p.Pro935=)
NM_001170629.2(CHD8):c.2811T>C (p.Leu937=)
NM_001170629.2(CHD8):c.2812C>T (p.Arg938Cys)
NM_001170629.2(CHD8):c.2823A>G (p.Glu941=) rs547587617
NM_001170629.2(CHD8):c.2907+10A>C
NM_001170629.2(CHD8):c.2907+18T>C
NM_001170629.2(CHD8):c.2955A>G (p.Glu985=)
NM_001170629.2(CHD8):c.2959C>T (p.Leu987=)
NM_001170629.2(CHD8):c.2988G>A (p.Pro996=)
NM_001170629.2(CHD8):c.3018C>T (p.Leu1006=)
NM_001170629.2(CHD8):c.303C>T (p.Ser101=)
NM_001170629.2(CHD8):c.3051+18T>G
NM_001170629.2(CHD8):c.3051+8dup
NM_001170629.2(CHD8):c.306G>A (p.Gln102=)
NM_001170629.2(CHD8):c.3159G>A (p.Leu1053=)
NM_001170629.2(CHD8):c.321A>G (p.Gln107=)
NM_001170629.2(CHD8):c.3294A>G (p.Pro1098=)
NM_001170629.2(CHD8):c.3307+13T>C
NM_001170629.2(CHD8):c.3308-14T>A
NM_001170629.2(CHD8):c.3308-163G>T rs116235357
NM_001170629.2(CHD8):c.3312T>C (p.Ala1104=)
NM_001170629.2(CHD8):c.3350A>G (p.His1117Arg)
NM_001170629.2(CHD8):c.3352A>G (p.Ile1118Val)
NM_001170629.2(CHD8):c.3362A>G (p.His1121Arg)
NM_001170629.2(CHD8):c.3366C>T (p.Asp1122=)
NM_001170629.2(CHD8):c.336A>G (p.Thr112=)
NM_001170629.2(CHD8):c.3373C>T (p.Leu1125=)
NM_001170629.2(CHD8):c.3387T>G (p.Val1129=)
NM_001170629.2(CHD8):c.339G>A (p.Ser113=)
NM_001170629.2(CHD8):c.3483C>T (p.Cys1161=)
NM_001170629.2(CHD8):c.3489C>T (p.Asp1163=)
NM_001170629.2(CHD8):c.3492C>T (p.Ile1164=) rs748583001
NM_001170629.2(CHD8):c.3501T>C (p.Asp1167=)
NM_001170629.2(CHD8):c.3518+27_3518+37del rs377091970
NM_001170629.2(CHD8):c.3518+7_3518+11del
NM_001170629.2(CHD8):c.3549T>C (p.Val1183=)
NM_001170629.2(CHD8):c.358T>C (p.Leu120=)
NM_001170629.2(CHD8):c.3633T>C (p.Ala1211=)
NM_001170629.2(CHD8):c.3715-14T>C
NM_001170629.2(CHD8):c.3762G>A (p.Val1254=)
NM_001170629.2(CHD8):c.3786C>T (p.Ser1262=)
NM_001170629.2(CHD8):c.3789C>T (p.Tyr1263=)
NM_001170629.2(CHD8):c.3792G>A (p.Glu1264=)
NM_001170629.2(CHD8):c.3831G>A (p.Leu1277=)
NM_001170629.2(CHD8):c.3849A>G (p.Gln1283=)
NM_001170629.2(CHD8):c.384C>A (p.Ile128=)
NM_001170629.2(CHD8):c.3882+19T>C
NM_001170629.2(CHD8):c.3883-13T>C
NM_001170629.2(CHD8):c.3883-20C>T
NM_001170629.2(CHD8):c.3885C>A (p.Ile1295=)
NM_001170629.2(CHD8):c.3885C>T (p.Ile1295=)
NM_001170629.2(CHD8):c.3888A>G (p.Gln1296=)
NM_001170629.2(CHD8):c.3918T>C (p.Leu1306=)
NM_001170629.2(CHD8):c.3926A>G (p.Lys1309Arg)
NM_001170629.2(CHD8):c.3939A>G (p.Ala1313=)
NM_001170629.2(CHD8):c.393A>G (p.Gln131=) rs1594379704
NM_001170629.2(CHD8):c.3984G>A (p.Glu1328=)
NM_001170629.2(CHD8):c.4062+13T>C
NM_001170629.2(CHD8):c.4063-16A>G
NM_001170629.2(CHD8):c.4063-19T>C
NM_001170629.2(CHD8):c.4063-20C>G
NM_001170629.2(CHD8):c.4080T>G (p.Ser1360=)
NM_001170629.2(CHD8):c.4101T>C (p.Ser1367=)
NM_001170629.2(CHD8):c.4113C>G (p.Pro1371=) rs576454823
NM_001170629.2(CHD8):c.4161G>A (p.Leu1387=)
NM_001170629.2(CHD8):c.4173+12_4173+14del
NM_001170629.2(CHD8):c.4174-18C>T
NM_001170629.2(CHD8):c.4174-9T>C
NM_001170629.2(CHD8):c.420C>T (p.Ala140=)
NM_001170629.2(CHD8):c.4233G>A (p.Leu1411=)
NM_001170629.2(CHD8):c.4239T>C (p.Asp1413=)
NM_001170629.2(CHD8):c.4286G>A (p.Arg1429Gln)
NM_001170629.2(CHD8):c.4326G>C (p.Gly1442=)
NM_001170629.2(CHD8):c.435C>T (p.Ser145=)
NM_001170629.2(CHD8):c.4365A>G (p.Val1455=)
NM_001170629.2(CHD8):c.4370+12A>G
NM_001170629.2(CHD8):c.4370+15T>C
NM_001170629.2(CHD8):c.4370+20T>C
NM_001170629.2(CHD8):c.4371-14T>G
NM_001170629.2(CHD8):c.4371-18T>C
NM_001170629.2(CHD8):c.4371-5T>C
NM_001170629.2(CHD8):c.4413G>A (p.Lys1471=)
NM_001170629.2(CHD8):c.4414C>A (p.Arg1472=)
NM_001170629.2(CHD8):c.4452G>A (p.Arg1484=)
NM_001170629.2(CHD8):c.4461C>T (p.Leu1487=)
NM_001170629.2(CHD8):c.4555T>C (p.Leu1519=)
NM_001170629.2(CHD8):c.4570+11A>G
NM_001170629.2(CHD8):c.4570+18A>T
NM_001170629.2(CHD8):c.4570+19_4570+23del
NM_001170629.2(CHD8):c.4571-12C>T
NM_001170629.2(CHD8):c.4571-9C>G
NM_001170629.2(CHD8):c.4575A>G (p.Leu1525=)
NM_001170629.2(CHD8):c.4620A>G (p.Ser1540=)
NM_001170629.2(CHD8):c.4626C>T (p.Ser1542=)
NM_001170629.2(CHD8):c.4629T>C (p.Thr1543=)
NM_001170629.2(CHD8):c.4650T>C (p.Asp1550=)
NM_001170629.2(CHD8):c.4656C>T (p.Ile1552=)
NM_001170629.2(CHD8):c.4665T>C (p.Tyr1555=)
NM_001170629.2(CHD8):c.4674C>T (p.Asp1558=)
NM_001170629.2(CHD8):c.4686A>G (p.Gln1562=)
NM_001170629.2(CHD8):c.4727+17C>T
NM_001170629.2(CHD8):c.4728-16C>T
NM_001170629.2(CHD8):c.4728-5T>C
NM_001170629.2(CHD8):c.4740G>A (p.Arg1580=)
NM_001170629.2(CHD8):c.4750C>T (p.Leu1584=)
NM_001170629.2(CHD8):c.4782C>T (p.Asp1594=)
NM_001170629.2(CHD8):c.4788A>G (p.Ala1596=)
NM_001170629.2(CHD8):c.4808C>T (p.Ala1603Val)
NM_001170629.2(CHD8):c.4817+10T>C
NM_001170629.2(CHD8):c.4817+15T>C
NM_001170629.2(CHD8):c.4818-13C>T
NM_001170629.2(CHD8):c.4818-17C>G
NM_001170629.2(CHD8):c.4818-18G>A
NM_001170629.2(CHD8):c.4818-18G>T
NM_001170629.2(CHD8):c.4818-9T>C
NM_001170629.2(CHD8):c.4867A>G (p.Thr1623Ala)
NM_001170629.2(CHD8):c.4921+17A>G
NM_001170629.2(CHD8):c.4923C>T (p.Gly1641=)
NM_001170629.2(CHD8):c.4941C>T (p.Thr1647=)
NM_001170629.2(CHD8):c.498A>G (p.Pro166=)
NM_001170629.2(CHD8):c.5016T>A (p.His1672Gln)
NM_001170629.2(CHD8):c.5041A>G (p.Ile1681Val)
NM_001170629.2(CHD8):c.5051+15T>G
NM_001170629.2(CHD8):c.5051+9T>G
NM_001170629.2(CHD8):c.5052-259G>A rs140691947
NM_001170629.2(CHD8):c.5097C>G (p.Leu1699=)
NM_001170629.2(CHD8):c.5109A>C (p.Pro1703=)
NM_001170629.2(CHD8):c.5127+15T>C
NM_001170629.2(CHD8):c.5128-18G>A
NM_001170629.2(CHD8):c.5146A>G (p.Met1716Val)
NM_001170629.2(CHD8):c.5150A>G (p.Asp1717Gly) rs2139450989
NM_001170629.2(CHD8):c.5182+11A>G
NM_001170629.2(CHD8):c.5182+20A>G
NM_001170629.2(CHD8):c.5183-16A>G
NM_001170629.2(CHD8):c.5190G>T (p.Val1730=)
NM_001170629.2(CHD8):c.5202A>G (p.Pro1734=)
NM_001170629.2(CHD8):c.5223G>A (p.Pro1741=)
NM_001170629.2(CHD8):c.5283G>A (p.Lys1761=)
NM_001170629.2(CHD8):c.5370A>G (p.Ala1790=)
NM_001170629.2(CHD8):c.5388A>G (p.Gln1796=)
NM_001170629.2(CHD8):c.5390+15G>T
NM_001170629.2(CHD8):c.5391-16A>G
NM_001170629.2(CHD8):c.5400G>A (p.Arg1800=)
NM_001170629.2(CHD8):c.5410A>G (p.Thr1804Ala)
NM_001170629.2(CHD8):c.5464A>G (p.Met1822Val)
NM_001170629.2(CHD8):c.5465T>C (p.Met1822Thr)
NM_001170629.2(CHD8):c.5475T>C (p.His1825=)
NM_001170629.2(CHD8):c.5491A>G (p.Thr1831Ala)
NM_001170629.2(CHD8):c.5583C>T (p.Pro1861=)
NM_001170629.2(CHD8):c.5591C>T (p.Ala1864Val)
NM_001170629.2(CHD8):c.5653C>T (p.Arg1885Trp)
NM_001170629.2(CHD8):c.5681G>A (p.Arg1894Gln)
NM_001170629.2(CHD8):c.5712C>G (p.Pro1904=)
NM_001170629.2(CHD8):c.5715T>G (p.Leu1905=)
NM_001170629.2(CHD8):c.573G>A (p.Val191=)
NM_001170629.2(CHD8):c.576A>G (p.Ala192=)
NM_001170629.2(CHD8):c.5782C>T (p.Arg1928Trp)
NM_001170629.2(CHD8):c.5815C>T (p.Arg1939Cys)
NM_001170629.2(CHD8):c.5876C>T (p.Ala1959Val)
NM_001170629.2(CHD8):c.5892T>C (p.Tyr1964=)
NM_001170629.2(CHD8):c.5908G>A (p.Ala1970Thr)
NM_001170629.2(CHD8):c.5910A>G (p.Ala1970=)
NM_001170629.2(CHD8):c.5936G>A (p.Arg1979His)
NM_001170629.2(CHD8):c.6051C>T (p.Pro2017=)
NM_001170629.2(CHD8):c.6066G>C (p.Leu2022=)
NM_001170629.2(CHD8):c.6081G>A (p.Glu2027=)
NM_001170629.2(CHD8):c.6084C>T (p.His2028=)
NM_001170629.2(CHD8):c.6093G>A (p.Val2031=)
NM_001170629.2(CHD8):c.6190G>A (p.Glu2064Lys) rs779756082
NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del) rs150254629
NM_001170629.2(CHD8):c.6261C>T (p.Ser2087=)
NM_001170629.2(CHD8):c.6289G>C (p.Glu2097Gln)
NM_001170629.2(CHD8):c.628C>A (p.Pro210Thr)
NM_001170629.2(CHD8):c.6315G>A (p.Lys2105=)
NM_001170629.2(CHD8):c.6319+10T>C
NM_001170629.2(CHD8):c.6319+16A>T
NM_001170629.2(CHD8):c.6320-20T>A
NM_001170629.2(CHD8):c.6320-4C>A
NM_001170629.2(CHD8):c.6332G>A (p.Arg2111His)
NM_001170629.2(CHD8):c.6427C>T (p.Leu2143=)
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=) rs370106194
NM_001170629.2(CHD8):c.6468+132dup rs1555313109
NM_001170629.2(CHD8):c.6468+7_6468+10del
NM_001170629.2(CHD8):c.6469-21TTTC[2] rs753480258
NM_001170629.2(CHD8):c.6469-4T>G
NM_001170629.2(CHD8):c.6472C>T (p.Arg2158Cys)
NM_001170629.2(CHD8):c.648C>T (p.Ser216=)
NM_001170629.2(CHD8):c.6498C>T (p.Leu2166=)
NM_001170629.2(CHD8):c.6513A>G (p.Val2171=)
NM_001170629.2(CHD8):c.6531T>A (p.Pro2177=)
NM_001170629.2(CHD8):c.6579A>G (p.Pro2193=)
NM_001170629.2(CHD8):c.6594A>G (p.Leu2198=)
NM_001170629.2(CHD8):c.6644C>T (p.Thr2215Ile)
NM_001170629.2(CHD8):c.6657T>C (p.Ser2219=)
NM_001170629.2(CHD8):c.666A>C (p.Thr222=)
NM_001170629.2(CHD8):c.6670A>G (p.Met2224Val)
NM_001170629.2(CHD8):c.669G>C (p.Val223=) rs1889540194
NM_001170629.2(CHD8):c.6717C>T (p.Phe2239=)
NM_001170629.2(CHD8):c.672G>A (p.Leu224=)
NM_001170629.2(CHD8):c.6759T>G (p.Val2253=)
NM_001170629.2(CHD8):c.6771+11C>T
NM_001170629.2(CHD8):c.6771+8C>T
NM_001170629.2(CHD8):c.687T>G (p.Pro229=)
NM_001170629.2(CHD8):c.7068T>C (p.Tyr2356=)
NM_001170629.2(CHD8):c.7085A>G (p.Lys2362Arg)
NM_001170629.2(CHD8):c.709C>T (p.Arg237Cys)
NM_001170629.2(CHD8):c.710G>A (p.Arg237His)
NM_001170629.2(CHD8):c.7110A>T (p.Lys2370Asn)
NM_001170629.2(CHD8):c.7126T>C (p.Leu2376=)
NM_001170629.2(CHD8):c.7158A>C (p.Thr2386=)
NM_001170629.2(CHD8):c.7179A>G (p.Lys2393=)
NM_001170629.2(CHD8):c.717C>T (p.Val239=)
NM_001170629.2(CHD8):c.7182+11T>G
NM_001170629.2(CHD8):c.7182+14C>G
NM_001170629.2(CHD8):c.7182+163_7182+165dup rs34364818
NM_001170629.2(CHD8):c.7183-10C>T
NM_001170629.2(CHD8):c.7183-13T>G
NM_001170629.2(CHD8):c.7183-4C>T
NM_001170629.2(CHD8):c.7183-6T>C
NM_001170629.2(CHD8):c.7183-7C>T
NM_001170629.2(CHD8):c.7194T>C (p.Thr2398=)
NM_001170629.2(CHD8):c.7200G>A (p.Thr2400=)
NM_001170629.2(CHD8):c.7211G>A (p.Arg2404Gln)
NM_001170629.2(CHD8):c.7234C>G (p.Pro2412Ala)
NM_001170629.2(CHD8):c.7252C>T (p.Arg2418Trp)
NM_001170629.2(CHD8):c.7259G>A (p.Arg2420His)
NM_001170629.2(CHD8):c.7263G>A (p.Arg2421=)
NM_001170629.2(CHD8):c.7267C>A (p.Arg2423=)
NM_001170629.2(CHD8):c.726C>T (p.Ser242=)
NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)
NM_001170629.2(CHD8):c.7296C>T (p.Leu2432=)
NM_001170629.2(CHD8):c.7325C>T (p.Ser2442Phe)
NM_001170629.2(CHD8):c.7329G>A (p.Leu2443=)
NM_001170629.2(CHD8):c.7335C>T (p.Asn2445=)
NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=) rs766944646
NM_001170629.2(CHD8):c.7452T>A (p.Pro2484=) rs2139428215
NM_001170629.2(CHD8):c.7479T>C (p.His2493=)
NM_001170629.2(CHD8):c.7488C>T (p.His2496=)
NM_001170629.2(CHD8):c.7499A>C (p.His2500Pro) rs745917082
NM_001170629.2(CHD8):c.7533G>A (p.Leu2511=)
NM_001170629.2(CHD8):c.7533G>C (p.Leu2511Phe)
NM_001170629.2(CHD8):c.7536A>G (p.Arg2512=)
NM_001170629.2(CHD8):c.7563G>T (p.Val2521=) rs1314375037
NM_001170629.2(CHD8):c.7569C>T (p.Thr2523=)
NM_001170629.2(CHD8):c.7590G>A (p.Arg2530=)
NM_001170629.2(CHD8):c.7602G>A (p.Leu2534=)
NM_001170629.2(CHD8):c.7605A>G (p.Gln2535=)
NM_001170629.2(CHD8):c.7621G>A (p.Asp2541Asn)
NM_001170629.2(CHD8):c.7632A>G (p.Glu2544=)
NM_001170629.2(CHD8):c.765T>G (p.Gly255=)
NM_001170629.2(CHD8):c.7662T>C (p.Tyr2554=)
NM_001170629.2(CHD8):c.783C>T (p.Asn261=)
NM_001170629.2(CHD8):c.801C>A (p.Pro267=)
NM_001170629.2(CHD8):c.844-7A>G
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)
NM_001170629.2(CHD8):c.85A>G (p.Thr29Ala)
NM_001170629.2(CHD8):c.907C>T (p.Arg303Trp)
NM_001170629.2(CHD8):c.951G>A (p.Gln317=)
NM_001170629.2(CHD8):c.98T>C (p.Ile33Thr)

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