ClinVar Miner

List of variants reported as benign for cystic kidney disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.*374T>C rs2784201 0.99624
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_138694.4(PKHD1):c.*2564A>G rs1414504 0.88144
NM_138694.4(PKHD1):c.*3026A>G rs2784199 0.70489
NM_003361.4(UMOD):c.522C>T (p.Cys174=) rs7193058 0.69325
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_000297.4(PKD2):c.*1237G>A rs10965 0.25694
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044 0.23760
NM_003361.4(UMOD):c.792G>A (p.Val264=) rs13335818 0.15554
NM_003361.4(UMOD):c.885G>A (p.Gly295=) rs28544423 0.15053
NM_000297.4(PKD2):c.*256C>T rs2728121 0.13098
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_138694.4(PKHD1):c.*2208A>G rs2784200 0.12333
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118 0.08616
NM_000297.4(PKD2):c.*1030G>A rs2725202 0.08186
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034 0.04948
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488 0.04490
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306 0.03897
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_003361.4(UMOD):c.-47T>C rs75645968 0.03162
NM_003361.4(UMOD):c.264C>T (p.Gly88=) rs77875418 0.02558
NM_003361.4(UMOD):c.*104C>T rs111699931 0.02416
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377 0.02396
NM_138694.4(PKHD1):c.*3025C>T rs2771012 0.02192
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_003361.4(UMOD):c.*130C>T rs113468667 0.01630
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_003361.4(UMOD):c.538C>G (p.Leu180Val) rs187555378 0.00991
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_003361.4(UMOD):c.-56G>A rs79245268 0.00692
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959 0.00286
NM_003361.3(UMOD):c.-159G>A rs138793302 0.00187
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_003361.4(UMOD):c.425G>A (p.Arg142Gln) rs199835347 0.00083
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp) rs141384205 0.00055
NM_003361.4(UMOD):c.1464C>T (p.Gly488=) rs141912637 0.00049
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro) rs143248111 0.00032
NM_003361.4(UMOD):c.1124G>A (p.Arg375Gln) rs151061376 0.00021
NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn) rs143641292 0.00020
NM_003361.4(UMOD):c.973+7C>T rs557659943 0.00014
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_003361.4(UMOD):c.1288G>A (p.Asp430Asn) rs200394184 0.00008
NM_003361.4(UMOD):c.1623G>T (p.Gly541=) rs562726925 0.00006
NM_003361.4(UMOD):c.974-15C>G rs201798915 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_003361.4(UMOD):c.1177T>C (p.Leu393=) rs748849021 0.00004
NM_003361.4(UMOD):c.1376G>A (p.Arg459Gln) rs201761378 0.00004
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp) rs368943553 0.00004
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
NM_003361.4(UMOD):c.1372G>T (p.Val458Leu) rs55772253
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003361.4(UMOD):c.840C>T (p.Pro280=) rs78691203
NM_138694.4(PKHD1):c.*3393C>A rs2784198
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699

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