ClinVar Miner

List of variants in gene CHD8 reported as benign by Invitae

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Gene type:
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Total variants: 62
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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.172G>A (p.Val58Met) rs10467770 0.25299
NM_001170629.2(CHD8):c.5007A>G (p.Ala1669=) rs61752837 0.02585
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.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.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.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.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.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.5051+19T>A rs138127807 0.00066
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.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.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.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.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.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.2748C>T (p.Gly916=)
NM_001170629.2(CHD8):c.2763C>T (p.Asp921=)
NM_001170629.2(CHD8):c.2934A>G (p.Thr978=)
NM_001170629.2(CHD8):c.3345T>C (p.Ala1115=)
NM_001170629.2(CHD8):c.3519-14C>T
NM_001170629.2(CHD8):c.3672C>T (p.Cys1224=)
NM_001170629.2(CHD8):c.4218C>T (p.Arg1406=)
NM_001170629.2(CHD8):c.4605A>G (p.Gly1535=)
NM_001170629.2(CHD8):c.4922-19A>G
NM_001170629.2(CHD8):c.6168G>A (p.Arg2056=)

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