ClinVar Miner

List of variants in gene PKD1 reported as likely benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960 0.30294
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) rs34197769 0.09456
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986 0.05767
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.03980
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593 0.01538
NM_001009944.3(PKD1):c.7863+13T>C rs115024665 0.00963
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) rs45478794 0.00702
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=) rs28674911 0.00516
NM_001009944.3(PKD1):c.11411+18C>T rs183078730 0.00483
NM_001009944.3(PKD1):c.7065+21G>A rs9930234 0.00418
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790 0.00411
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033 0.00366
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00352
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410 0.00329
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00313
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00216
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371 0.00185
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile) rs149874529 0.00121
NM_001009944.3(PKD1):c.9924-11C>T rs201154266 0.00111
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128 0.00080
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val) rs141946034 0.00078
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu) rs145922241 0.00077
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser) rs200279710 0.00076
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=) rs12102740 0.00073
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=) rs138116334 0.00070
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=) rs373854628 0.00068
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00067
NM_001009944.3(PKD1):c.9569-11C>T rs188641836 0.00064
NM_001009944.3(PKD1):c.3369C>T (p.Arg1123=) rs143449093 0.00061
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_001009944.3(PKD1):c.2431C>G (p.Leu811Val) rs137928037 0.00058
NM_001009944.3(PKD1):c.6204C>T (p.Ser2068=) rs141524278 0.00058
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met) rs151089809 0.00053
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=) rs768813212 0.00041
NM_001009944.3(PKD1):c.10240G>A (p.Gly3414Ser) rs371762181 0.00040
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=) rs375384742 0.00036
NM_001009944.3(PKD1):c.9678C>T (p.Asn3226=) rs138332867 0.00036
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=) rs373880615 0.00033
NM_001009944.3(PKD1):c.10619-13del rs562614426 0.00033
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=) rs375408086 0.00033
NM_001009944.3(PKD1):c.951T>C (p.Ala317=) rs540366995 0.00032
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_001009944.3(PKD1):c.242C>T (p.Ala81Val) rs531570028 0.00023
NM_001009944.3(PKD1):c.10822-8C>G rs9924796 0.00022
NM_001009944.3(PKD1):c.5457C>T (p.Ala1819=) rs532521117 0.00021
NM_001009944.3(PKD1):c.7463C>T (p.Thr2488Ile) rs755367165 0.00019
NM_001009944.3(PKD1):c.10920C>T (p.Ser3640=) rs150388984 0.00018
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=) rs377662680 0.00017
NM_001009944.3(PKD1):c.12075G>A (p.Glu4025=) rs754786423 0.00016
NM_001009944.3(PKD1):c.8331G>A (p.Ala2777=) rs201589702 0.00016
NM_001009944.3(PKD1):c.11713-11G>A rs780999638 0.00013
NM_001009944.3(PKD1):c.8161+15G>A rs776023570 0.00009
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00009
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=) rs146915755 0.00008
NM_001009944.3(PKD1):c.11473C>T (p.Leu3825=) rs151157369 0.00007
NM_001009944.3(PKD1):c.996C>T (p.His332=) rs773259284 0.00003
NM_001009944.3(PKD1):c.9162C>T (p.Ser3054=) rs757261713 0.00001
NM_001009944.3(PKD1):c.1005C>T (p.Ala335=)
NM_001009944.3(PKD1):c.10098C>T (p.Asp3366=)
NM_001009944.3(PKD1):c.10220+20C>T
NM_001009944.3(PKD1):c.10414C>T (p.Leu3472=)
NM_001009944.3(PKD1):c.10499+18G>A
NM_001009944.3(PKD1):c.10619-14C>T
NM_001009944.3(PKD1):c.10800C>T (p.Phe3600=)
NM_001009944.3(PKD1):c.10911G>A (p.Thr3637=)
NM_001009944.3(PKD1):c.11017-9G>A
NM_001009944.3(PKD1):c.11511G>A (p.Leu3837=)
NM_001009944.3(PKD1):c.11537+17C>G rs201660914
NM_001009944.3(PKD1):c.11679C>T (p.Leu3893=)
NM_001009944.3(PKD1):c.11712+8C>T
NM_001009944.3(PKD1):c.11713-9C>A
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.12004-11C>T
NM_001009944.3(PKD1):c.1413G>A (p.Ser471=)
NM_001009944.3(PKD1):c.1842C>T (p.Ser614=)
NM_001009944.3(PKD1):c.1944T>C (p.Pro648=)
NM_001009944.3(PKD1):c.2136T>C (p.Gly712=) rs565591302
NM_001009944.3(PKD1):c.216-18C>T
NM_001009944.3(PKD1):c.2208T>C (p.Pro736=)
NM_001009944.3(PKD1):c.2877C>T (p.Ala959=)
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=) rs1324429294
NM_001009944.3(PKD1):c.2985+11G>A
NM_001009944.3(PKD1):c.315G>A (p.Thr105=)
NM_001009944.3(PKD1):c.3162-129G>A
NM_001009944.3(PKD1):c.359+19G>C
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.4623T>C (p.Asn1541=)
NM_001009944.3(PKD1):c.4962C>T (p.Ala1654=)
NM_001009944.3(PKD1):c.5542C>T (p.Arg1848Cys)
NM_001009944.3(PKD1):c.603C>T (p.His201=) rs13334842
NM_001009944.3(PKD1):c.6210C>T (p.Pro2070=)
NM_001009944.3(PKD1):c.6528C>T (p.Arg2176=)
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6747G>C (p.Val2249=) rs2544800676
NM_001009944.3(PKD1):c.702G>A (p.Ala234=)
NM_001009944.3(PKD1):c.7308C>T (p.Gly2436=)
NM_001009944.3(PKD1):c.8016+12C>T
NM_001009944.3(PKD1):c.8124G>A (p.Thr2708=)
NM_001009944.3(PKD1):c.8162-13C>T
NM_001009944.3(PKD1):c.8526C>T (p.Tyr2842=)
NM_001009944.3(PKD1):c.8865C>T (p.His2955=)
NM_001009944.3(PKD1):c.9078G>A (p.Arg3026=)
NM_001009944.3(PKD1):c.9712+8C>T

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.