List of variants studied for Polycystic kidney disease 2 by Cavalleri Lab, Royal College of Surgeons in Ireland

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		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000297.4(PKD2):c.1094+1G>A	rs58606740	0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	rs1553925453	0.00001
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg)	rs1727783547
NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter)	rs1727790591
NM_000297.4(PKD2):c.1551del (p.Ser518fs)	rs776718970
NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)	rs1726231891
NM_000297.4(PKD2):c.2020-1_2020del	rs1553927436
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)	rs555242193
NM_000297.4(PKD2):c.2378_2384del (p.His793fs)	rs1720855394
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	rs755226061
NM_000297.4(PKD2):c.405del (p.Ala136fs)	rs1726245372
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter)	rs1726673986
NM_000297.4(PKD2):c.744C>A (p.Tyr248Ter)	rs1727326556
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)	rs1727420867
NM_000297.4(PKD2):c.982_984del (p.Asn328del)	rs1727421192

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