List of variants reported as pathogenic for Polycystic kidney disease, adult type by OMIM

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)	rs199476099	0.00351
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	rs1555455457	0.00001
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del)	rs1567154953
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)	rs199476098
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)	rs199476096
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter)	rs1218054241
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)	rs199476094
NM_001009944.3(PKD1):c.12138+1G>C	rs2151684070
NM_001009944.3(PKD1):c.12261T>A (p.Cys4087Ter)	rs199476097
NM_001009944.3(PKD1):c.12420G>A (p.Trp4140Ter)	rs199476102
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	rs199476095
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100
NM_001009944.3(PKD1):c.3296-1G>A	rs1567204631
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)	rs199476101
NM_001009944.3(PKD1):c.6440_6467del (p.Arg2147fs)	rs1567192790
NM_001009944.3(PKD1):c.[7735_7737del;7972_7979del]

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