ClinVar Miner

List of variants reported as likely 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: 61
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.*2331C>T rs76762827 0.04028
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_138694.4(PKHD1):c.*3044A>T rs41273712 0.01744
NM_138694.4(PKHD1):c.*1525G>A rs6941633 0.01740
NM_138694.4(PKHD1):c.*636C>A rs41273718 0.01441
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_138694.4(PKHD1):c.*1637G>A rs77227361 0.01221
NM_138694.4(PKHD1):c.*2082A>G rs79635571 0.01218
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_000297.4(PKD2):c.*837C>G rs77638442 0.01121
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_138694.4(PKHD1):c.888A>T (p.Pro296=) rs76012218 0.00916
NM_000297.4(PKD2):c.*1120C>T rs116540621 0.00805
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00770
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00563
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487 0.00453
NM_003361.4(UMOD):c.1062C>T (p.Phe354=) rs78613713 0.00362
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00257
NM_000297.4(PKD2):c.*239T>G rs147418332 0.00237
NM_000297.4(PKD2):c.*384T>C rs192342290 0.00237
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp) rs139607138 0.00146
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_000297.4(PKD2):c.*1397G>A rs563444129 0.00102
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) rs1801612 0.00065
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_000297.4(PKD2):c.*604G>A rs377022187 0.00037
NM_003361.4(UMOD):c.1500A>G (p.Ala500=) rs200895986 0.00037
NM_000297.4(PKD2):c.*1997T>C rs375324508 0.00036
NM_000297.4(PKD2):c.*794C>A rs370387859 0.00036
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690 0.00028
NM_003361.4(UMOD):c.1916T>C (p.Phe639Ser) rs145165861 0.00016
NM_003361.4(UMOD):c.1383G>A (p.Ala461=) rs147222401 0.00011
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) rs573469832 0.00008
NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys) rs758221597 0.00003
NM_000297.4(PKD2):c.1548+9G>C rs376901684 0.00001
NM_000297.4(PKD2):c.2139C>T (p.Val713=) rs200707583 0.00001
NM_003361.4(UMOD):c.1123C>T (p.Arg375Trp) rs373609971 0.00001
NM_138694.4(PKHD1):c.*1559T>C rs546309551 0.00001
NM_138694.4(PKHD1):c.*2086A>G rs569538414 0.00001
NM_138694.4(PKHD1):c.*2201G>A rs535226662 0.00001
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156 0.00001
NM_000297.4(PKD2):c.*235dup rs200938134
NM_000297.4(PKD2):c.-82G>C rs529779778
NM_003361.4(UMOD):c.-14del rs764637746
NM_138694.4(PKHD1):c.*2064G>T rs141074474
NM_138694.4(PKHD1):c.*2666G>A rs77036429
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138

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