List of variants in gene PKD2 reported as pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000297.4(PKD2):c.1094+1G>A	rs58606740	0.00001
NM_000297.4(PKD2):c.1047dup (p.Val350fs)	rs1578130597
NM_000297.4(PKD2):c.1088del (p.Gly363fs)	rs1553925467
NM_000297.4(PKD2):c.1325del (p.Leu442fs)	rs1578135829
NM_000297.4(PKD2):c.1737_1746delinsAACAGG (p.Phe579Leufs)	rs1560620277
NM_000297.4(PKD2):c.2019+1G>A	rs1553927080
NM_000297.4(PKD2):c.2019+1_2019+5del	rs1578142941
NM_000297.4(PKD2):c.2503dup (p.Ser835fs)	rs1560628245
NM_000297.4(PKD2):c.2524del (p.Leu842fs)	rs1553928730
NM_000297.4(PKD2):c.986del (p.Gly329fs)	rs1553925459
NM_000297.4(PKD2):c.999delinsAGA (p.Pro334fs)	rs1560608729

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