ClinVar Miner

List of variants reported as uncertain significance for Polycystic kidney disease 2 by Illumina Laboratory Services, Illumina

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_000297.4(PKD2):c.*1113G>A rs541524392 0.00232
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_000297.4(PKD2):c.-26C>T rs530444554 0.00134
NM_000297.4(PKD2):c.*552G>A rs139787413 0.00123
NM_000297.4(PKD2):c.441G>A (p.Ala147=) rs866815144 0.00109
NM_000297.4(PKD2):c.*957T>A rs143594425 0.00098
NM_000297.4(PKD2):c.2720G>A (p.Arg907Gln) rs150947109 0.00086
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_000297.4(PKD2):c.*174G>T rs187001642 0.00069
NM_000297.4(PKD2):c.-68A>G rs547865163 0.00065
NM_000297.4(PKD2):c.1836T>C (p.Ala612=) rs145952917 0.00048
NM_000297.4(PKD2):c.402G>A (p.Val134=) rs886059696 0.00042
NM_000297.4(PKD2):c.403G>A (p.Gly135Ser) rs886059697 0.00042
NM_000297.4(PKD2):c.2829C>T (p.Ser943=) rs138495345 0.00036
NM_000297.4(PKD2):c.*110T>G rs563547032 0.00035
NM_000297.4(PKD2):c.*1588G>A rs758211189 0.00034
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_000297.4(PKD2):c.*1221T>C rs577956232 0.00025
NM_000297.4(PKD2):c.*1406C>G rs748885735 0.00023
NM_000297.4(PKD2):c.*1152T>C rs367711189 0.00015
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala) rs200314088 0.00013
NM_000297.4(PKD2):c.9C>T (p.Asn3=) rs773343245 0.00012
NM_000297.4(PKD2):c.-47G>C rs770096557 0.00011
NM_000297.4(PKD2):c.356G>A (p.Arg119His) rs748654180 0.00010
NM_000297.4(PKD2):c.*1250A>G rs971004998 0.00008
NM_000297.4(PKD2):c.203C>A (p.Pro68Gln) rs751221093 0.00008
NM_000297.4(PKD2):c.154C>A (p.Leu52Met) rs886059694 0.00007
NM_000297.4(PKD2):c.419G>A (p.Gly140Glu) rs776779368 0.00007
NM_000297.4(PKD2):c.*744G>A rs886059706 0.00006
NM_000297.4(PKD2):c.103G>A (p.Ala35Thr) rs759263638 0.00006
NM_000297.4(PKD2):c.104C>A (p.Ala35Asp) rs765176523 0.00006
NM_000297.4(PKD2):c.2240+10A>G rs201679112 0.00006
NM_000297.4(PKD2):c.*968A>G rs531591196 0.00005
NM_000297.4(PKD2):c.2388A>G (p.Leu796=) rs535577967 0.00005
NM_000297.4(PKD2):c.1542C>T (p.Ile514=) rs145716012 0.00004
NM_000297.4(PKD2):c.1555G>A (p.Val519Met) rs148920907 0.00004
NM_000297.4(PKD2):c.2241-9T>C rs886059702 0.00004
NM_000297.4(PKD2):c.514G>T (p.Asp172Tyr) rs886059698 0.00004
NM_000297.4(PKD2):c.*1654T>C rs778483971 0.00003
NM_000297.4(PKD2):c.*1826A>G rs189817187 0.00002
NM_000297.4(PKD2):c.1250G>A (p.Arg417Gln) rs142261953 0.00002
NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp) rs749112798 0.00002
NM_000297.4(PKD2):c.*116C>T rs529071216 0.00001
NM_000297.4(PKD2):c.*1175T>A rs886059707 0.00001
NM_000297.4(PKD2):c.*1291T>C rs1325998362 0.00001
NM_000297.4(PKD2):c.*351T>C rs1166143834 0.00001
NM_000297.4(PKD2):c.-64C>T rs886059693 0.00001
NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr) rs144431856 0.00001
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu) rs1408612463 0.00001
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg) rs181037821 0.00001
NM_000297.4(PKD2):c.199C>T (p.Pro67Ser) rs1426011277 0.00001
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 0.00001
NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys) rs770609334 0.00001
NM_000297.4(PKD2):c.2743C>T (p.Arg915Cys) rs1215199829 0.00001
NM_000297.4(PKD2):c.2902G>C (p.Val968Leu) rs549787080 0.00001
NM_000297.4(PKD2):c.945G>A (p.Leu315=) rs201789789 0.00001
NM_000297.4(PKD2):c.*1010G>A rs144024108
NM_000297.4(PKD2):c.*1611T>G rs886059709
NM_000297.4(PKD2):c.*1972C>G rs1721278680
NM_000297.4(PKD2):c.*2000G>A rs182468664
NM_000297.4(PKD2):c.*507T>G rs772523897
NM_000297.4(PKD2):c.*515A>G rs1721229575
NM_000297.4(PKD2):c.-82G>A rs529779778
NM_000297.4(PKD2):c.1114A>G (p.Lys372Glu) rs188394492
NM_000297.4(PKD2):c.1486C>T (p.Arg496Cys) rs977431912
NM_000297.4(PKD2):c.1496A>G (p.Lys499Arg) rs1727791483
NM_000297.4(PKD2):c.1573A>C (p.Asn525His) rs1720121916
NM_000297.4(PKD2):c.189C>T (p.Ala63=) rs886059695
NM_000297.4(PKD2):c.1915A>T (p.Ile639Phe) rs964798879
NM_000297.4(PKD2):c.1934A>G (p.Asn645Ser) rs1720428369
NM_000297.4(PKD2):c.2757T>C (p.Asp919=) rs1199134875
NM_000297.4(PKD2):c.2803C>T (p.Leu935=) rs957416019
NM_000297.4(PKD2):c.331G>A (p.Val111Met) rs1726241184
NM_000297.4(PKD2):c.544G>C (p.Gly182Arg) rs886059699
NM_000297.4(PKD2):c.740A>G (p.Tyr247Cys) rs886059700
NM_000297.4(PKD2):c.781C>T (p.Pro261Ser) rs886059701

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