List of variants in gene PKD1 reported as likely pathogenic for Autosomal dominant polycystic kidney disease

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: 43

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met)	rs748496650	0.00003
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)	rs1163700577	0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val)	rs144338515	0.00001
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met)	rs541552030	0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.3(PKD1):c.9202-16G>A	rs1389523126	0.00001
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)	rs373222937
NM_001009944.3(PKD1):c.10167+25_10167+43del	rs1197421698
NM_001009944.3(PKD1):c.11016+2T>C
NM_001009944.3(PKD1):c.11017-10C>A	rs555703777
NM_001009944.3(PKD1):c.11017-25A>C	rs2151704874
NM_001009944.3(PKD1):c.11017-25A>G	rs2151704874
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys)	rs866331895
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)	rs2151698069
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His)	rs2151697614
NM_001009944.3(PKD1):c.1202-9G>A	rs1596588606
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)	rs1555444468
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro)	rs1064797205
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)	rs1060499699
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)	rs781018494
NM_001009944.3(PKD1):c.2069T>A (p.Val690Asp)
NM_001009944.3(PKD1):c.215+2T>G	rs2544960078
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.2720ACGTGGTGG[1] (p.Asp910_Val912del)	rs2092591934
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro)	rs2151826530
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)	rs1567208088
NM_001009944.3(PKD1):c.359+3A>T	rs2151826018
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala)	rs2092501507
NM_001009944.3(PKD1):c.471_478dup (p.Ser160fs)	rs2544882902
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)	rs2092427197
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)	rs1555454460
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser)	rs1567218351
NM_001009944.3(PKD1):c.7209+1G>C	rs2544784172
NM_001009944.3(PKD1):c.7489+5G>A	rs2092337963
NM_001009944.3(PKD1):c.7721_7724del (p.Leu2574fs)	rs2544776290
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	rs1452322332
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp)	rs761060813
NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del)	rs2092048798
NM_001009944.3(PKD1):c.9503T>C (p.Phe3168Ser)
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)	rs2092047055
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)	rs869312944
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly)	rs1596513913
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)	rs1232180956

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