List of variants in gene PKD2 reported as pathogenic by Molecular Biology Laboratory, Fundació Puigvert

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)	rs1324209174	0.00001
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter)	rs1276594505	0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)	rs369678636	0.00001
NM_000297.4(PKD2):c.1445del (p.Phe482fs)	rs1578135940
NM_000297.4(PKD2):c.2119-2A>G	rs1720752309
NM_000297.4(PKD2):c.2508C>A (p.Tyr836Ter)	rs757682666
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)	rs780351760
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)	rs200001068

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