ClinVar Miner

List of variants reported as uncertain significance for CHARGE association by Genetic Services Laboratory,University of Chicago

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Total variants: 13
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HGVS dbSNP
NM_017780.4(CHD7):c.1512A>G (p.Gln504=) rs587783430
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser) rs587783435
NM_017780.4(CHD7):c.3201+3A>T rs587783437
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu) rs587783444
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly) rs587783452
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906

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