ClinVar Miner

List of variants in gene MEFV studied for Brachydactyly; Autistic behavior; Stereotypy; Abnormal facial shape; Synophrys; Microcephaly; Impaired use of nonverbal behaviors; Generalized hypotonia; Profound global developmental delay

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717

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