ClinVar Miner

List of variants in gene CHD8 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 285
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 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.3882+6T>C rs373037739 0.00059
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090 0.00058
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.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.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.7117A>G (p.Lys2373Glu) rs374435577 0.00009
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.4817+14A>G rs754410131 0.00004
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn) rs376095447 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.6405A>G (p.Gly2135=) rs745467579 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.3966C>T (p.Gly1322=) rs1171603040 0.00002
NM_001170629.2(CHD8):c.5820T>C (p.His1940=) rs750311902 0.00002
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.5790T>C (p.Asp1930=) rs778154578 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.7338G>A (p.Thr2446=) rs746978340 0.00001
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.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.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.1387C>A (p.Arg463=)
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.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.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.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.1890G>A (p.Gln630=)
NM_001170629.2(CHD8):c.1899+8G>A
NM_001170629.2(CHD8):c.1900-11T>G
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.1974T>G (p.Pro658=)
NM_001170629.2(CHD8):c.2025-11A>G
NM_001170629.2(CHD8):c.2025-19A>G
NM_001170629.2(CHD8):c.2052T>C (p.Thr684=)
NM_001170629.2(CHD8):c.2103C>T (p.Phe701=)
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.228A>G (p.Thr76=)
NM_001170629.2(CHD8):c.2346C>T (p.His782=)
NM_001170629.2(CHD8):c.2365-15C>T
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.2487-16dup
NM_001170629.2(CHD8):c.2487-19T>C
NM_001170629.2(CHD8):c.2487-19del rs111776414
NM_001170629.2(CHD8):c.2493C>T (p.Asn831=)
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.2703G>A (p.Gln901=)
NM_001170629.2(CHD8):c.2730+19G>A
NM_001170629.2(CHD8):c.2766T>C (p.Ala922=)
NM_001170629.2(CHD8):c.2805T>C (p.Pro935=)
NM_001170629.2(CHD8):c.2823A>G (p.Glu941=) rs547587617
NM_001170629.2(CHD8):c.2907+18T>C
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.306G>A (p.Gln102=)
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.3312T>C (p.Ala1104=)
NM_001170629.2(CHD8):c.3352A>G (p.Ile1118Val)
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+7_3518+11del
NM_001170629.2(CHD8):c.3633T>C (p.Ala1211=)
NM_001170629.2(CHD8):c.3715-14T>C
NM_001170629.2(CHD8):c.3786C>T (p.Ser1262=)
NM_001170629.2(CHD8):c.3789C>T (p.Tyr1263=)
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.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.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.4063-20C>G
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.4174-9T>C
NM_001170629.2(CHD8):c.4233G>A (p.Leu1411=)
NM_001170629.2(CHD8):c.4239T>C (p.Asp1413=)
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.4461C>T (p.Leu1487=)
NM_001170629.2(CHD8):c.4570+18A>T
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.4686A>G (p.Gln1562=)
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.4782C>T (p.Asp1594=)
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.4818-18G>A
NM_001170629.2(CHD8):c.4818-18G>T
NM_001170629.2(CHD8):c.4818-9T>C
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.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.5097C>G (p.Leu1699=)
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.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.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.5464A>G (p.Met1822Val)
NM_001170629.2(CHD8):c.5583C>T (p.Pro1861=)
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.576A>G (p.Ala192=)
NM_001170629.2(CHD8):c.5892T>C (p.Tyr1964=)
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.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.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+16A>T
NM_001170629.2(CHD8):c.6320-4C>A
NM_001170629.2(CHD8):c.6332G>A (p.Arg2111His)
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=) rs370106194
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.6594A>G (p.Leu2198=)
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.7068T>C (p.Tyr2356=)
NM_001170629.2(CHD8):c.7158A>C (p.Thr2386=)
NM_001170629.2(CHD8):c.717C>T (p.Val239=)
NM_001170629.2(CHD8):c.7183-10C>T
NM_001170629.2(CHD8):c.7183-13T>G
NM_001170629.2(CHD8):c.7183-6T>C
NM_001170629.2(CHD8):c.7194T>C (p.Thr2398=)
NM_001170629.2(CHD8):c.7200G>A (p.Thr2400=)
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.7296C>T (p.Leu2432=)
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.7533G>A (p.Leu2511=)
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.7605A>G (p.Gln2535=)
NM_001170629.2(CHD8):c.7632A>G (p.Glu2544=)
NM_001170629.2(CHD8):c.7662T>C (p.Tyr2554=)
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)

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.