ClinVar Miner

List of variants in gene PKD1 reported as likely benign by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677 0.19794
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123 0.05219
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553 0.04733
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188 0.04174
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309 0.03447
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051 0.02881
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593 0.01538
NM_001009944.3(PKD1):c.7489+41G>A rs187691000 0.01291
NM_001009944.3(PKD1):c.*15G>A rs77566834 0.01262
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275 0.00926
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) rs45478794 0.00702
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00622
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.4264G>A (p.Ala1422Thr) rs140980374 0.00485
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00429
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665 0.00413
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00352
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=) rs57870377 0.00331
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00313
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00313
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 0.00270
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001009944.3(PKD1):c.5852G>A (p.Arg1951Gln) rs137905643 0.00156
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val) rs139917246 0.00140
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=) rs146745256 0.00137
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val) rs144590217 0.00123
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00115
NM_001009944.3(PKD1):c.9924-11C>T rs201154266 0.00111
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943 0.00110
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=) rs142606648 0.00061
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=) rs149924232 0.00060
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001009944.3(PKD1):c.1326C>T (p.Ala442=) rs376607683 0.00046
NM_001009944.3(PKD1):c.7575C>T (p.Phe2525=) rs144409293 0.00044
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=) rs375408086 0.00033
NM_001009944.3(PKD1):c.8042G>A (p.Arg2681His) rs200742306 0.00032
NM_001009944.3(PKD1):c.2707A>G (p.Ser903Gly) rs4018172 0.00030
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=) rs145648167 0.00023
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_001009944.3(PKD1):c.6099G>A (p.Ala2033=) rs376744819 0.00017
NM_001009944.3(PKD1):c.11713-23C>T rs768264052 0.00015
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=) rs530703053 0.00015
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr) rs201035636 0.00009
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752 0.00006
NM_001009944.3(PKD1):c.9228C>T (p.Ile3076=) rs532264532 0.00004
NM_001009944.3(PKD1):c.9510C>T (p.Ile3170=) rs760864722 0.00003
NM_001009944.3(PKD1):c.10536G>A (p.Ala3512=) rs1265357275 0.00001
NM_001009944.3(PKD1):c.5979A>G (p.Thr1993=) rs756636397 0.00001
NM_001009944.3(PKD1):c.12078C>T (p.Leu4026=) rs562488184
NM_001009944.3(PKD1):c.2136T>C (p.Gly712=) rs565591302
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4824T>C (p.Asn1608=) rs569136450
NM_001009944.3(PKD1):c.7734C>T (p.Asn2578=) rs776513110
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=) rs537012440
NM_001009944.3(PKD1):c.8161+70C>A rs566524677

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