ClinVar Miner

List of variants in gene CHAT reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_020549.4(CHAT):c.1511+11C>T rs746929234
NM_020549.4(CHAT):c.1839+12C>T rs1554808562
NM_020549.4(CHAT):c.1978-24C>G rs73321467
NM_020549.4(CHAT):c.387T>C (p.Ser129=) rs143723043
NM_020549.4(CHAT):c.745C>G (p.Leu249Val) rs115510708
NM_020549.4(CHAT):c.789G>A (p.Leu263=) rs114090981

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