ClinVar Miner

List of variants reported as likely benign for Parkinson disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=) rs33962975 0.11278
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn) rs1801474 0.05277
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906 0.03091
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_198578.4(LRRK2):c.6844-14_6844-13insA rs150964683 0.01681
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=) rs76779558 0.01418
NM_198578.4(LRRK2):c.5509+20A>C rs11564134 0.01309
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883 0.01276
NM_198578.4(LRRK2):c.867C>T (p.Asn289=) rs17490713 0.01182
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380 0.01170
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln) rs61744200 0.00956
NM_000157.4(GBA1):c.762-18T>A rs140335079 0.00896
NM_020821.3(VPS13C):c.1929A>C (p.Ala643=) rs115871350 0.00801
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala) rs4640000 0.00717
NM_000345.4(SNCA):c.*139T>G rs10024743 0.00703
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_198241.3(EIF4G1):c.4510C>T (p.Leu1504=) rs74627110 0.00490
NM_007262.5(PARK7):c.*124C>T rs147437667 0.00484
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276 0.00452
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
NM_007262.5(PARK7):c.166G>A (p.Ala56Thr) rs114601558 0.00448
NM_198578.4(LRRK2):c.5510-9A>G rs41286460 0.00252
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) rs75671029 0.00236
NM_032409.3(PINK1):c.387+20A>G rs368222506 0.00122
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431 0.00121
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile) rs116733906 0.00116
NM_000157.4(GBA1):c.1473C>T (p.Pro491=) rs149257166 0.00094
NM_018206.6(VPS35):c.834T>C (p.Thr278=) rs148572750 0.00093
NM_198241.3(EIF4G1):c.2979C>T (p.Arg993=) rs11918961 0.00057
NM_032409.3(PINK1):c.1488+17C>T rs140025459 0.00055
NM_198578.4(LRRK2):c.1383T>C (p.Ser461=) rs35847451 0.00047
NM_022089.4(ATP13A2):c.3235+20C>T rs376475762 0.00044
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_198578.4(LRRK2):c.2481T>C (p.Ser827=) rs76890302 0.00038
NM_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp) rs138780308 0.00035
NM_004181.5(UCHL1):c.609A>G (p.Glu203=) rs147661219 0.00031
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val) rs34594498 0.00025
NM_198578.4(LRRK2):c.7462+15G>C rs200420425 0.00025
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) rs34410987 0.00023
NM_000345.4(SNCA):c.121+11C>T rs35135226 0.00022
NM_198578.4(LRRK2):c.45T>C (p.Thr15=) rs142399623 0.00019
NM_032409.3(PINK1):c.153A>G (p.Gly51=) rs967760539 0.00018
NM_004562.3(PRKN):c.837C>T (p.His279=) rs149433924 0.00014
NM_032409.3(PINK1):c.177C>T (p.Val59=) rs766471374 0.00014
NM_003560.4(PLA2G6):c.447C>T (p.Asn149=) rs368631309 0.00011
NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser) rs369612645 0.00011
NM_198578.4(LRRK2):c.2229T>G (p.Ser743=) rs200425243 0.00011
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077 0.00010
NM_000345.4(SNCA):c.391-16A>G rs371014092 0.00006
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_203446.3(SYNJ1):c.3697+12T>G rs763338383 0.00006
NM_012179.4(FBXO7):c.1221G>A (p.Pro407=) rs201127594 0.00005
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=) rs115142761 0.00004
NM_004562.3(PRKN):c.219G>A (p.Pro73=) rs139083077 0.00004
NM_004562.3(PRKN):c.276G>A (p.Ala92=) rs200256562 0.00004
NM_012179.4(FBXO7):c.465G>A (p.Ala155=) rs765523844 0.00003
NM_013247.5(HTRA2):c.618C>G (p.Val206=) rs186272815 0.00003
NM_198578.4(LRRK2):c.5931C>T (p.His1977=) rs201119482 0.00003
NM_004181.5(UCHL1):c.175-4G>A rs778240876 0.00001
NM_000157.4(GBA1):c.*92G>A
NM_000345.4(SNCA):c.*77C>A rs145304567
NM_000345.4(SNCA):c.243A>G (p.Thr81=) rs568436589
NM_004181.5(UCHL1):c.326-4del rs3214812
NM_018206.6(VPS35):c.915-16T>G rs757051230
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_198578.4(LRRK2):c.2689+19_2689+20dup rs66810434
NM_198578.4(LRRK2):c.2689+20dup rs66810434
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NM_198578.4(LRRK2):c.936G>T (p.Ala312=) rs41286466

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