ClinVar Miner

List of variants in gene PKD1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787 0.00720
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385 0.00619
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830 0.00507
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00448
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00329
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00328
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=) rs143013095 0.00239
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00226
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027 0.00161
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00125
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943 0.00110
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=) rs141138826 0.00094
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128 0.00080
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=) rs570750726 0.00073
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=) rs12102740 0.00073
NM_001009944.3(PKD1):c.8161+5C>T rs534696523 0.00061
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=) rs547262346 0.00054
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=) rs768813212 0.00041
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835 0.00039
NM_001009944.3(PKD1):c.12253C>T (p.Leu4085=) rs199674888 0.00039
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=) rs367600795 0.00039
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654 0.00039
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=) rs373880615 0.00034
NM_001009944.3(PKD1):c.423G>A (p.Glu141=) rs9932419 0.00034
NM_001009944.3(PKD1):c.8042G>A (p.Arg2681His) rs200742306 0.00032
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=) rs141132307 0.00031
NM_001009944.3(PKD1):c.2707A>G (p.Ser903Gly) rs4018172 0.00030
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001009944.3(PKD1):c.10363C>T (p.Leu3455=) rs114102239 0.00022
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) rs950293866 0.00020
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr) rs201599671 0.00020
NM_001009944.3(PKD1):c.9548G>A (p.Arg3183Gln) rs79648977 0.00020
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_001009944.3(PKD1):c.3726G>A (p.Thr1242=) rs146243410 0.00017
NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile) rs145532417 0.00017
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=) rs374619113 0.00016
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=) rs143124196 0.00013
NM_001009944.3(PKD1):c.6572G>A (p.Arg2191His) rs774490045 0.00012
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn) rs150189496 0.00012
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu) rs201062488 0.00011
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=) rs146363575 0.00011
NM_001009944.3(PKD1):c.8464G>A (p.Val2822Met) rs201289693 0.00010
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) rs201417193 0.00009
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr) rs201035636 0.00009
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149 0.00007
NM_001009944.3(PKD1):c.8473C>T (p.Leu2825Phe) rs138058871 0.00006
NM_001009944.3(PKD1):c.7488G>A (p.Thr2496=) rs776604789 0.00005
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr) rs779607937 0.00003
NM_001009944.3(PKD1):c.747C>T (p.Ser249=) rs568816990 0.00002
NM_001009944.3(PKD1):c.8619C>T (p.Thr2873=) rs143419418 0.00002
NM_001009944.3(PKD1):c.12778C>T (p.Arg4260Cys) rs755897784 0.00001
NM_001009944.3(PKD1):c.10122C>T (p.Ser3374=)
NM_001009944.3(PKD1):c.10137C>T (p.Ser3379=)
NM_001009944.3(PKD1):c.10822-8del rs373684171
NM_001009944.3(PKD1):c.11319A>G (p.Ala3773=)
NM_001009944.3(PKD1):c.11397G>A (p.Ala3799=)
NM_001009944.3(PKD1):c.11406G>A (p.Leu3802=)
NM_001009944.3(PKD1):c.11646C>G (p.Ala3882=) rs1233644486
NM_001009944.3(PKD1):c.11799C>T (p.Leu3933=)
NM_001009944.3(PKD1):c.11904C>G (p.Arg3968=)
NM_001009944.3(PKD1):c.11989C>T (p.Leu3997=)
NM_001009944.3(PKD1):c.12399C>T (p.Phe4133=)
NM_001009944.3(PKD1):c.12570C>T (p.Ser4190=)
NM_001009944.3(PKD1):c.12651C>T (p.Ala4217=)
NM_001009944.3(PKD1):c.12690C>T (p.Asn4230=)
NM_001009944.3(PKD1):c.12699A>G (p.Thr4233=)
NM_001009944.3(PKD1):c.12825C>T (p.Ala4275=)
NM_001009944.3(PKD1):c.1311G>A (p.Gln437=)
NM_001009944.3(PKD1):c.1572G>A (p.Ala524=)
NM_001009944.3(PKD1):c.177C>G (p.Leu59=)
NM_001009944.3(PKD1):c.1971C>T (p.Asp657=)
NM_001009944.3(PKD1):c.2017C>G (p.Pro673Ala)
NM_001009944.3(PKD1):c.2086G>A (p.Ala696Thr)
NM_001009944.3(PKD1):c.2102C>T (p.Thr701Ile)
NM_001009944.3(PKD1):c.2244G>C (p.Ser748=)
NM_001009944.3(PKD1):c.2514G>A (p.Val838=)
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu) rs551162125
NM_001009944.3(PKD1):c.3618G>A (p.Val1206=)
NM_001009944.3(PKD1):c.3691G>A (p.Val1231Ile)
NM_001009944.3(PKD1):c.3978C>T (p.Phe1326=)
NM_001009944.3(PKD1):c.402G>T (p.Ala134=)
NM_001009944.3(PKD1):c.4047C>T (p.Phe1349=) rs770459654
NM_001009944.3(PKD1):c.4104G>C (p.Ala1368=)
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4486G>A (p.Ala1496Thr)
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.4641C>T (p.Arg1547=)
NM_001009944.3(PKD1):c.5259C>G (p.Ser1753=)
NM_001009944.3(PKD1):c.530-6T>C
NM_001009944.3(PKD1):c.573C>T (p.Thr191=)
NM_001009944.3(PKD1):c.5880G>A (p.Gln1960=)
NM_001009944.3(PKD1):c.5913G>A (p.Val1971=)
NM_001009944.3(PKD1):c.6123C>T (p.Arg2041=)
NM_001009944.3(PKD1):c.6204C>T (p.Ser2068=)
NM_001009944.3(PKD1):c.6330C>T (p.Ala2110=)
NM_001009944.3(PKD1):c.6457G>A (p.Val2153Met)
NM_001009944.3(PKD1):c.6603A>G (p.Pro2201=)
NM_001009944.3(PKD1):c.6624C>T (p.Gly2208=)
NM_001009944.3(PKD1):c.6798C>T (p.Arg2266=)
NM_001009944.3(PKD1):c.7101C>T (p.Ser2367=)
NM_001009944.3(PKD1):c.7280C>T (p.Ala2427Val) rs140494005
NM_001009944.3(PKD1):c.7437C>T (p.Phe2479=)
NM_001009944.3(PKD1):c.7703+24C>A
NM_001009944.3(PKD1):c.7746G>A (p.Thr2582=)
NM_001009944.3(PKD1):c.8087T>G (p.Leu2696Arg) rs201238819
NM_001009944.3(PKD1):c.827C>T (p.Thr276Ile)
NM_001009944.3(PKD1):c.8334C>T (p.Gly2778=)
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.8684A>G (p.Asn2895Ser)
NM_001009944.3(PKD1):c.8694G>A (p.Val2898=)
NM_001009944.3(PKD1):c.8850C>T (p.Pro2950=)
NM_001009944.3(PKD1):c.9034A>G (p.Thr3012Ala)
NM_001009944.3(PKD1):c.9276C>T (p.Ala3092=)
NM_001009944.3(PKD1):c.9468C>T (p.Gly3156=)
NM_001009944.3(PKD1):c.9526C>T (p.Leu3176=) rs745376136
NM_001009944.3(PKD1):c.9597C>T (p.His3199=)
NM_001009944.3(PKD1):c.9668C>T (p.Thr3223Met)
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330

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