ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as pathogenic by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1539+1G>T	rs138642840

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