ClinVar Miner

List of variants studied for CHARGE association by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5
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NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val)
NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter)
NM_017780.4(CHD7):c.7297del (p.Val2433fs) rs1064793972
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu)

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