ClinVar Miner

List of variants studied for Parkinson Disease, Dominant by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000345.4(SNCA):c.*893C>T rs356165 0.53603
NM_014321.4(ORC6):c.-20T>C rs33994299 0.33690
NM_000345.4(SNCA):c.*2108A>T rs1045722 0.23733
NM_000345.4(SNCA):c.*2105G>A rs3857053 0.23489
NM_000345.4(SNCA):c.*1287G>A rs377356638 0.15186
NM_018206.6(VPS35):c.*283del rs886052005 0.07609
NM_000345.4(SNCA):c.*501C>T rs17016074 0.04776
NM_000345.4(SNCA):c.*1677C>T rs17016072 0.04338
NM_000345.4(SNCA):c.*139T>G rs10024743 0.00703
NM_000345.4(SNCA):c.*173G>A rs79726680 0.00645
NM_000345.4(SNCA):c.*1896C>T rs186189862 0.00484
NM_000345.4(SNCA):c.*593C>A rs35101723 0.00475
NM_000345.4(SNCA):c.*1002T>G rs182722435 0.00363
NM_000345.4(SNCA):c.*2230G>A rs183802441 0.00323
NM_014321.4(ORC6):c.-47G>A rs144065502 0.00280
NM_000345.4(SNCA):c.-219G>C rs757451373 0.00274
NM_000345.4(SNCA):c.*1289T>C rs527798413 0.00261
NM_000345.4(SNCA):c.408C>T (p.Tyr136=) rs76642636 0.00252
NM_198578.4(LRRK2):c.5510-9A>G rs41286460 0.00252
NM_000345.4(SNCA):c.*2320A>T rs529553259 0.00154
NM_000345.4(SNCA):c.*860T>A rs577490090 0.00153
NM_000345.4(SNCA):c.-26+7G>A rs548276692 0.00116
NM_000345.4(SNCA):c.*1047T>G rs532025477 0.00078
NM_001146055.2(SNCA):c.-26+1042G>A rs372025454 0.00073
NM_000345.4(SNCA):c.*2037T>C rs553070344 0.00045
NM_000345.4(SNCA):c.*2106G>A rs555697933 0.00030
NM_000345.4(SNCA):c.-26+15C>T rs545809130 0.00024
NM_000345.4(SNCA):c.121+11C>T rs35135226 0.00022
NM_000345.4(SNCA):c.216G>A (p.Thr72=) rs144758871 0.00021
NM_000345.4(SNCA):c.*1716A>T rs765029456 0.00019
NM_000345.4(SNCA):c.-129G>A rs367902113 0.00019
NM_000345.4(SNCA):c.-127C>T rs764272411 0.00018
NM_000345.4(SNCA):c.*2291C>T rs550895688 0.00017
NM_000345.4(SNCA):c.-115C>G rs926228768 0.00017
NM_000345.4(SNCA):c.*1983A>G rs766004459 0.00015
NM_000345.3(SNCA):c.-251A>C rs767878442 0.00014
NM_000345.4(SNCA):c.298T>C (p.Leu100=) rs138969470 0.00014
NM_000345.4(SNCA):c.*894G>A rs192179063 0.00011
NM_000345.4(SNCA):c.*1078A>T rs886059723 0.00010
NM_000345.4(SNCA):c.*1310A>T rs886059719 0.00010
NM_000345.4(SNCA):c.150T>G (p.His50Gln) rs201106962 0.00007
NM_000345.4(SNCA):c.*2501C>A rs886059711 0.00006
NM_000345.4(SNCA):c.*1033T>C rs550521282 0.00004
NM_000345.4(SNCA):c.*1702G>A rs886059714 0.00004
NM_000345.4(SNCA):c.*112A>G rs748631342 0.00003
NM_000345.4(SNCA):c.*1678G>A rs998774082 0.00003
NM_000345.4(SNCA):c.*2277A>C rs375815714 0.00003
NM_000345.4(SNCA):c.*56C>G rs778443752 0.00003
NM_000345.4(SNCA):c.287A>G (p.Lys96Arg) rs548523899 0.00003
NM_000345.4(SNCA):c.*211G>A rs886059728 0.00001
NM_000345.4(SNCA):c.*2396G>A rs924716962 0.00001
NM_000345.4(SNCA):c.*249G>A rs553599518 0.00001
NM_000345.4(SNCA):c.*630T>G rs886059725 0.00001
NM_000345.4(SNCA):c.-40G>A rs886059729 0.00001
NM_000345.4(SNCA):c.382C>A (p.Pro128Thr) rs750899874 0.00001
NM_018206.6(VPS35):c.*259_*260dup rs886052011 0.00001
NM_000345.4(SNCA):c.*1077del rs886059724
NM_000345.4(SNCA):c.*114C>G rs1724920607
NM_000345.4(SNCA):c.*116C>T rs144511886
NM_000345.4(SNCA):c.*1245del rs886059722
NM_000345.4(SNCA):c.*1260CT[7] rs5860180
NM_000345.4(SNCA):c.*1276C>T rs201351609
NM_000345.4(SNCA):c.*1280T>C rs200268319
NM_000345.4(SNCA):c.*1285T>A rs1402261655
NM_000345.4(SNCA):c.*1287G>T rs377356638
NM_000345.4(SNCA):c.*1291_*1292insTTT rs886059720
NM_000345.4(SNCA):c.*1291_*1292insTTTCT rs1553905630
NM_000345.4(SNCA):c.*1291_*1292insTTTTT rs886059720
NM_000345.4(SNCA):c.*1292C>T rs867272212
NM_000345.4(SNCA):c.*1292_*1296dup rs886059721
NM_000345.4(SNCA):c.*1305_*1309dup rs397994464
NM_000345.4(SNCA):c.*1306_*1309dup rs397994464
NM_000345.4(SNCA):c.*1306_*1310dup rs1553905608
NM_000345.4(SNCA):c.*1307_*1311dup rs886059716
NM_000345.4(SNCA):c.*1308_*1309dup rs397994464
NM_000345.4(SNCA):c.*1308_*1310dup rs1553905607
NM_000345.4(SNCA):c.*1310_*1311insTTT rs886059718
NM_000345.4(SNCA):c.*1310_*1311insTTTTT rs886059718
NM_000345.4(SNCA):c.*1311C>T rs1305349888
NM_000345.4(SNCA):c.*1311del rs886059717
NM_000345.4(SNCA):c.*1325A>G rs886059715
NM_000345.4(SNCA):c.*1518T>C rs1724761878
NM_000345.4(SNCA):c.*1893T>C rs561717303
NM_000345.4(SNCA):c.*2047G>A rs1724721752
NM_000345.4(SNCA):c.*2227C>A rs551886776
NM_000345.4(SNCA):c.*2269C>T rs886059713
NM_000345.4(SNCA):c.*2330C>T rs886059712
NM_000345.4(SNCA):c.*277G>T rs886059727
NM_000345.4(SNCA):c.*465A>T rs886059726
NM_000345.4(SNCA):c.*504T>C rs1724880624
NM_000345.4(SNCA):c.*575ATTTT[1] rs756360541
NM_000345.4(SNCA):c.*77C>A rs145304567
NM_000345.4(SNCA):c.*852G>A rs150645039
NM_000345.4(SNCA):c.*923A>G rs925720552
NM_000345.4(SNCA):c.-26+1G>A rs1560562993
NM_000345.4(SNCA):c.-42T>C rs886059730
NM_000345.4(SNCA):c.243A>G (p.Thr81=) rs568436589
NM_000345.4(SNCA):c.249G>A (p.Glu83=) rs1737224483
NM_004181.5(UCHL1):c.326-4del rs3214812
NM_018206.6(VPS35):c.*258del rs886052012
NM_018206.6(VPS35):c.*275_*276insCAA rs886052010
NM_018206.6(VPS35):c.*276_*277insCAA rs886052008
NM_018206.6(VPS35):c.*277_*278insCA rs886052007
NM_018206.6(VPS35):c.*278_*279insCAA rs575317929
NM_018206.6(VPS35):c.*279_*280insCAAA rs886052006
NM_018206.6(VPS35):c.*281CA[1] rs879039152
NM_018206.6(VPS35):c.*281delinsAAAA rs1555522775
NM_018206.6(VPS35):c.*281delinsAAAAA rs1555522775
NM_018206.6(VPS35):c.*285_*287dup rs369068093
NM_018206.6(VPS35):c.*287_*288insAAAC rs1555522760
NM_018206.6(VPS35):c.*287_*288insAAC rs1555522760
NM_018206.6(VPS35):c.*287dup rs369068093
NM_018206.6(VPS35):c.*761_*762dup rs34926621
NM_018206.6(VPS35):c.*762dup rs34926621

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