ClinVar Miner

List of variants in gene CHD8 reported as benign by Ambry Genetics

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Gene type:
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Total variants: 21
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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.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.6650G>A (p.Arg2217Gln) rs149307240 0.00125
NM_001170629.2(CHD8):c.6243T>A (p.Ser2081=) rs201856289 0.00075
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.6232C>T (p.Leu2078=) rs188900504 0.00028
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His) rs745375504 0.00006
NM_001170629.2(CHD8):c.2318G>A (p.Arg773Gln) rs763874660 0.00005

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