ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.3477G>A (p.Val1159=) rs8022395 0.92426
NM_001170629.2(CHD8):c.6468+54G>T rs7152833 0.85917
NM_001170629.2(CHD8):c.5052-73G>T rs10134108 0.80476
NM_001170629.2(CHD8):c.2731-296A>G rs7147024 0.80426
NM_001170629.2(CHD8):c.2908-45C>G rs7155123 0.80426
NM_001170629.2(CHD8):c.5128-205G>A rs1952554 0.79871
NM_001170629.2(CHD8):c.3308-177A>C rs8011945 0.79828
NM_001170629.2(CHD8):c.7182+26del rs35057134 0.26916
NM_001170629.2(CHD8):c.172G>A (p.Val58Met) rs10467770 0.25299
NM_001170629.2(CHD8):c.1601+74T>G rs8015402 0.14733
NM_001170629.2(CHD8):c.1602-125A>G rs17197114 0.12764
NM_001170629.2(CHD8):c.844-122G>A rs57764234 0.10014
NM_001170629.2(CHD8):c.5391-116C>T rs61973167 0.09511
NM_001170629.2(CHD8):c.2730+327A>G rs61973170 0.07637
NM_001170629.2(CHD8):c.2731-285G>A rs7141803 0.07618
NM_001170629.2(CHD8):c.5051+73A>G rs61973169 0.06826
NM_001170629.2(CHD8):c.7182+162G>T rs575071320 0.04973
NM_001170629.2(CHD8):c.2365-68A>T rs11851628 0.04366
NM_001170629.2(CHD8):c.2908-234A>G rs74352743 0.04229
NM_001170629.2(CHD8):c.2364+322A>G rs77637570 0.03690
NM_001170629.2(CHD8):c.1968+253A>G rs61973175 0.03677
NM_001170629.2(CHD8):c.4063-36A>G rs199499304 0.03652
NM_001170629.2(CHD8):c.2226+105G>A rs116179240 0.03645
NM_001170629.2(CHD8):c.5007A>G (p.Ala1669=) rs61752837 0.02585
NM_001170629.2(CHD8):c.1602-151C>G rs11848144 0.02440
NM_001170629.2(CHD8):c.2908-71T>C rs73579663 0.02429
NM_001170629.2(CHD8):c.2364+236C>T rs8015439 0.01915
NM_001170629.2(CHD8):c.3715-85G>T rs80311097 0.01760
NM_001170629.2(CHD8):c.2227-182A>G rs114842481 0.01744
NM_001170629.2(CHD8):c.1601+243A>T rs141185930 0.01696
NM_001170629.2(CHD8):c.7665T>C (p.Asp2555=) rs61748933 0.01650
NM_001170629.2(CHD8):c.6537C>T (p.Ser2179=) rs61756312 0.01457
NM_001170629.2(CHD8):c.3307+86T>C rs116904182 0.01023
NM_001170629.2(CHD8):c.1716+80C>T rs79484978 0.00918
NM_001170629.2(CHD8):c.1437C>T (p.Asn479=) rs61744173 0.00897
NM_001170629.2(CHD8):c.2373G>A (p.Pro791=) rs61752838 0.00607
NM_001170629.2(CHD8):c.1843C>T (p.Pro615Ser) rs61744458 0.00579
NM_001170629.2(CHD8):c.4818-63T>A rs140676325 0.00543
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.4809G>A (p.Ala1603=) rs61736703 0.00383
NM_001170629.2(CHD8):c.1822A>G (p.Ile608Val) rs200056646 0.00371
NM_001170629.2(CHD8):c.145A>G (p.Met49Val) rs181830482 0.00300
NM_001170629.2(CHD8):c.6571T>C (p.Leu2191=) rs61741241 0.00297
NM_001170629.2(CHD8):c.5391-40T>C rs188442867 0.00262
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839 0.00255
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_001170629.2(CHD8):c.2907+12A>T rs200189975 0.00186
NM_001170629.2(CHD8):c.4921+16T>A rs142564496 0.00185
NM_001170629.2(CHD8):c.4173+11T>C rs143716456 0.00160
NM_001170629.2(CHD8):c.5390+10A>T rs181227407 0.00133
NM_001170629.2(CHD8):c.2025-36A>G rs187044867 0.00125
NM_001170629.2(CHD8):c.6650G>A (p.Arg2217Gln) rs149307240 0.00125
NM_001170629.2(CHD8):c.4728-19C>T rs187327123 0.00111
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.5195A>G (p.Gln1732Arg) rs201074234 0.00091
NM_001170629.2(CHD8):c.2362G>A (p.Val788Met) rs191366877 0.00088
NM_001170629.2(CHD8):c.4571-10C>A rs150205863 0.00088
NM_001170629.2(CHD8):c.7203G>A (p.Val2401=) rs181239271 0.00084
NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=) rs370827611 0.00080
NM_001170629.2(CHD8):c.3715-15T>G rs369876599 0.00076
NM_001170629.2(CHD8):c.6243T>A (p.Ser2081=) rs201856289 0.00075
NM_001170629.2(CHD8):c.2142+35C>T rs191496918 0.00070
NM_001170629.2(CHD8):c.5051+19T>A rs138127807 0.00066
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.7620C>T (p.Asp2540=) rs367905297 0.00052
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001170629.2(CHD8):c.1717-4A>G rs191933523 0.00043
NM_001170629.2(CHD8):c.5128-34C>T rs58514360 0.00043
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.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001170629.2(CHD8):c.6312G>A (p.Glu2104=) rs118140634 0.00030
NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=) rs188900504 0.00028
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.2487-37C>T rs541093415 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.1716+36C>A rs143279762 0.00016
NM_001170629.2(CHD8):c.2907+45C>T rs138832292 0.00013
NM_001170629.2(CHD8):c.5607C>T (p.Pro1869=) rs537080482 0.00009
NM_001170629.2(CHD8):c.1809T>C (p.Asp603=) rs755210469 0.00006
NM_001170629.2(CHD8):c.3396C>T (p.Ala1132=) rs200180762 0.00002
NM_001170629.2(CHD8):c.852G>A (p.Ser284=) rs765203840 0.00002
NM_001170629.2(CHD8):c.1216-21G>A rs377451081 0.00001
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln) rs573063062 0.00001
NM_001170629.2(CHD8):c.*142del rs370612022
NM_001170629.2(CHD8):c.1323G>A (p.Gly441=)
NM_001170629.2(CHD8):c.1395A>G (p.Val465=)
NM_001170629.2(CHD8):c.1494C>T (p.Gly498=)
NM_001170629.2(CHD8):c.1573T>C (p.Ser525Pro) rs771409666
NM_001170629.2(CHD8):c.174G>A (p.Val58=)
NM_001170629.2(CHD8):c.1968+32ATTT[10] rs34695967
NM_001170629.2(CHD8):c.1968+32ATTT[7] rs34695967
NM_001170629.2(CHD8):c.2025-72C>A rs17792659
NM_001170629.2(CHD8):c.2226+16A>G
NM_001170629.2(CHD8):c.2487-28_2487-27dup rs111776414
NM_001170629.2(CHD8):c.2487-28dup rs111776414
NM_001170629.2(CHD8):c.2487-56dup rs145389674
NM_001170629.2(CHD8):c.2748C>T (p.Gly916=)
NM_001170629.2(CHD8):c.2763C>T (p.Asp921=)
NM_001170629.2(CHD8):c.2908-168_2908-167del rs141397644
NM_001170629.2(CHD8):c.2934A>G (p.Thr978=)
NM_001170629.2(CHD8):c.3051+24A>C rs150422713
NM_001170629.2(CHD8):c.3345T>C (p.Ala1115=)
NM_001170629.2(CHD8):c.3519-14C>T
NM_001170629.2(CHD8):c.3519-18dup
NM_001170629.2(CHD8):c.3672C>T (p.Cys1224=)
NM_001170629.2(CHD8):c.4063-43dup rs113076568
NM_001170629.2(CHD8):c.4218C>T (p.Arg1406=)
NM_001170629.2(CHD8):c.4605A>G (p.Gly1535=)
NM_001170629.2(CHD8):c.4817+111A>G rs56229026
NM_001170629.2(CHD8):c.4922-19A>G
NM_001170629.2(CHD8):c.6168G>A (p.Arg2056=)
NM_001170629.2(CHD8):c.6468+117dup rs10646956
NM_001170629.2(CHD8):c.7182+163dup rs34364818
NM_001170629.2(CHD8):c.7182+177_7182+178del rs34364818
NM_001170629.2(CHD8):c.844-148G>T rs373148160

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