ClinVar Miner

List of variants in gene TMEM218 studied for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys) rs141744337 0.00009
NM_001258244.2(TMEM218):c.175C>T (p.Arg59Ter) rs758805438 0.00005

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