ClinVar Miner

List of variants in gene RET reported as pathogenic for Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832

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