ClinVar Miner

List of variants reported as benign for CHARGE association by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 6
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HGVS dbSNP
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.4(CHD7):c.3202-5T>C rs147994149
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820

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