ClinVar Miner

List of variants in gene combination TBC1D7, TBC1D7-LOC100130357 reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_016495.6(TBC1D7):c.413C>A (p.Ala138Asp)	rs80189640	0.00278

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