List of variants in gene PKD1 reported as uncertain significance for not specified

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: 104

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.11017-3C>T	rs185355445	0.00135
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)	rs147992238	0.00053
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln)	rs146494724	0.00044
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)	rs748887038	0.00040
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)	rs201991587	0.00035
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met)	rs564570407	0.00026
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala)	rs2239671	0.00024
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln)	rs201021499	0.00021
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)	rs950293866	0.00020
NM_001009944.3(PKD1):c.9740G>A (p.Arg3247His)	rs140791671	0.00019
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)	rs201409107	0.00018
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys)	rs773407492	0.00016
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg)	rs200001471	0.00016
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr)	rs764822533	0.00016
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met)	rs767665300	0.00013
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln)	rs1800569	0.00013
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp)	rs374486955	0.00012
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)	rs528213425	0.00012
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp)	rs769208706	0.00010
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys)	rs374629549	0.00009
NM_001009944.3(PKD1):c.997G>A (p.Val333Met)	rs772316684	0.00009
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr)	rs555901411	0.00007
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr)	rs757107371	0.00006
NM_001009944.3(PKD1):c.1202-8G>A	rs560799680	0.00004
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala)	rs1341672915	0.00004
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=)	rs369632433	0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu)	rs138096771	0.00004
NM_001009944.3(PKD1):c.12803C>T (p.Pro4268Leu)	rs767385060	0.00003
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)	rs773329559	0.00003
NM_001009944.3(PKD1):c.3295+12G>C	rs1397385522	0.00003
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys)	rs770755888	0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)	rs767834829	0.00003
NM_001009944.3(PKD1):c.461C>T (p.Thr154Met)	rs1441482246	0.00003
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val)	rs780284563	0.00003
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu)	rs781681199	0.00002
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu)	rs769345341	0.00002
NM_001009944.3(PKD1):c.10303C>T (p.Arg3435Trp)	rs562831339	0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser)	rs1311664031	0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr)	rs556681288	0.00001
NM_001009944.3(PKD1):c.6836G>A (p.Ser2279Asn)	rs368363458	0.00001
NM_001009944.3(PKD1):c.7946C>T (p.Thr2649Ile)	rs1490043027	0.00001
NM_001009944.3(PKD1):c.8246C>T (p.Ala2749Val)	rs773014664	0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His)	rs1452116333	0.00001
NM_001009944.3(PKD1):c.10320_10337delinsATGGCC (p.Gln3441_Leu3446delinsTrpPro)	rs1555448280
NM_001009944.3(PKD1):c.10601C>T (p.Ala3534Val)
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys)	rs866331895
NM_001009944.3(PKD1):c.11213A>G (p.Asn3738Ser)	rs1555446380
NM_001009944.3(PKD1):c.11240C>A (p.Pro3747Gln)	rs2151701971
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro)	rs1555445569
NM_001009944.3(PKD1):c.11713-3C>G	rs754015180
NM_001009944.3(PKD1):c.11743G>C (p.Ala3915Pro)	rs1555445237
NM_001009944.3(PKD1):c.11813G>A (p.Arg3938Gln)
NM_001009944.3(PKD1):c.11852T>A (p.Val3951Glu)	rs1555445164
NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro)	rs1555444981
NM_001009944.3(PKD1):c.12095G>A (p.Gly4032Asp)	rs142768096
NM_001009944.3(PKD1):c.12407G>A (p.Arg4136Lys)	rs768391524
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe)	rs757068311
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln)	rs1188304476
NM_001009944.3(PKD1):c.1306T>C (p.Cys436Arg)	rs1555458892
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly)	rs1555458865
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)	rs1555458704
NM_001009944.3(PKD1):c.1598A>G (p.Gln533Arg)	rs2855342
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser)	rs1555458683
NM_001009944.3(PKD1):c.2233G>A (p.Ala745Thr)
NM_001009944.3(PKD1):c.2902A>G (p.Thr968Ala)	rs1555457457
NM_001009944.3(PKD1):c.2942T>C (p.Val981Ala)	rs1555457440
NM_001009944.3(PKD1):c.3007_3024dup (p.Ser1003_Asn1008dup)	rs1555457321
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys)	rs2092684130
NM_001009944.3(PKD1):c.3568C>T (p.Arg1190Cys)
NM_001009944.3(PKD1):c.3644T>C (p.Leu1215Pro)	rs1555456557
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly)	rs2151800134
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg)	rs1057518976
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln)
NM_001009944.3(PKD1):c.4217C>T (p.Pro1406Leu)	rs1258742494
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser)
NM_001009944.3(PKD1):c.4720G>A (p.Ala1574Thr)	rs767157522
NM_001009944.3(PKD1):c.4946C>T (p.Thr1649Met)
NM_001009944.3(PKD1):c.4979C>G (p.Thr1660Ser)
NM_001009944.3(PKD1):c.5036G>A (p.Ser1679Asn)	rs756419129
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln)	rs569887918
NM_001009944.3(PKD1):c.5093G>C (p.Arg1698Pro)	rs569887918
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu)	rs770462764
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala)	rs1555459201
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys)	rs776113903
NM_001009944.3(PKD1):c.6017G>C (p.Trp2006Ser)
NM_001009944.3(PKD1):c.6148A>G (p.Asn2050Asp)	rs1302127440
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys)
NM_001009944.3(PKD1):c.641G>C (p.Cys214Ser)
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp)	rs2151787670
NM_001009944.3(PKD1):c.6865G>A (p.Gly2289Ser)
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile)	rs1555453383
NM_001009944.3(PKD1):c.7169_7171del (p.Glu2390del)	rs1555453367
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg)	rs771788496
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val)	rs1555452734
NM_001009944.3(PKD1):c.8086C>T (p.Leu2696Phe)
NM_001009944.3(PKD1):c.8162-13C>G
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys)	rs1229120097
NM_001009944.3(PKD1):c.8791+5G>C	rs751652400
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr)	rs1555450667
NM_001009944.3(PKD1):c.8948+15C>T	rs778271516
NM_001009944.3(PKD1):c.9065_9070del (p.Asp3022_Met3023del)	rs1555450426
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala)	rs1085307551
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del)	rs1555449461
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)	rs775497330

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