ClinVar Miner

List of variants in gene CHD7 reported as benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00014
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047

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