ClinVar Miner

List of variants in gene POLRMT reported as uncertain significance for Progressive sclerosing poliodystrophy

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)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu)

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