ClinVar Miner

List of variants reported as pathogenic for nutritional disorder by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378

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