ClinVar Miner

List of variants in gene CHD8 studied for not specified

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413 0.00436
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_001170629.2(CHD8):c.6650G>A (p.Arg2217Gln) rs149307240 0.00125
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929 0.00101
NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=) rs370827611 0.00080
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.6232C>T (p.Leu2078=) rs188900504 0.00028
NM_001170629.2(CHD8):c.7115A>G (p.Asn2372Ser) rs1169004595 0.00001
NM_001170629.2(CHD8):c.1717-21dup
NM_001170629.2(CHD8):c.2611A>G (p.Ile871Val)
NM_001170629.2(CHD8):c.28G>A (p.Asp10Asn)
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile) rs1888123647
NM_001170629.2(CHD8):c.416C>G (p.Ser139Cys) rs1889549675
NM_001170629.2(CHD8):c.4780G>A (p.Asp1594Asn)
NM_001170629.2(CHD8):c.4940C>T (p.Thr1647Ile) rs879255360
NM_001170629.2(CHD8):c.5052-18G>A
NM_001170629.2(CHD8):c.7256C>A (p.Ala2419Asp)
NM_001170629.2(CHD8):c.7317del (p.Ser2440fs)

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