ClinVar Miner

List of variants in gene CHD7 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_017780.4(CHD7):c.2614-45A>G rs6471902 0.79408
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.77651
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_017780.4(CHD7):c.3522+13T>A rs199581494 0.00126
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489 0.00035
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384 0.00028
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=) rs372889781 0.00008
NM_017780.4(CHD7):c.7332A>G (p.Leu2444=) rs764110898 0.00004
NM_017780.4(CHD7):c.5271G>A (p.Ala1757=) rs775003129 0.00003
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169 0.00002
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) rs374602567 0.00001
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_017780.4(CHD7):c.3408A>G (p.Pro1136=) rs587783438
NM_017780.4(CHD7):c.7200GAG[4] (p.Arg2405del) rs374380640
NM_017780.4(CHD7):c.7294G>T (p.Val2432Leu) rs372078650

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