List of variants in gene PKD2 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)	rs1578130676	0.00001
NM_000297.4(PKD2):c.1319+1G>A	rs1131692280	0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)	rs121918040	0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)	rs1302726543	0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	rs1553925453	0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)	rs1060503526	0.00001
NM_000297.4(PKD2):c.1094+3_1094+6del	rs1553925470
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)	rs121918042
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs)	rs1578144898
NM_000297.4(PKD2):c.2159del (p.Asn720fs)	rs757757289
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter)	rs1578147448
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)	rs778235410
NM_000297.4(PKD2):c.2523-1G>A	rs1553928728
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	rs755226061
NM_000297.4(PKD2):c.595+1G>C	rs1578111778
NM_000297.4(PKD2):c.654_655del (p.Ser219fs)	rs1578118330
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter)	rs1578129049

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