ClinVar Miner

List of variants reported as pathogenic for CHARGE association by Mendelics

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ClinVar version:
Total variants: 5
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NM_017780.4(CHD7):c.2957+5G>A rs1586390236
NM_017780.4(CHD7):c.5051-1G>A rs1586432203
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs) rs1586444410
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter) rs1586452965
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264

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