ClinVar Miner

List of variants studied for juvenile-onset Parkinson disease by Genome-Nilou Lab

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.1195+66A>G rs9435736 0.80687
NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=) rs4582839 0.69474
NM_001256864.2(DNAJC6):c.194-21G>T rs2296478 0.58031
NM_001256864.2(DNAJC6):c.194-19T>G rs2296479 0.57220
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_001256864.2(DNAJC6):c.1500G>A (p.Glu500=) rs4325172 0.44325
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_022089.4(ATP13A2):c.3236-30C>T rs2076605 0.41484
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_001256864.2(DNAJC6):c.544-9C>T rs2296481 0.25003
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn) rs4915691 0.20494
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=) rs12077111 0.17885
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=) rs11208644 0.17883
NM_001256864.2(DNAJC6):c.194-20_194-19insG rs111346712 0.03019
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=) rs61753391 0.01829
NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=) rs7551930 0.01341
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380 0.01170
NM_001256864.2(DNAJC6):c.1320A>T (p.Thr440=) rs142136708 0.00462
NM_001256864.2(DNAJC6):c.194-5G>T rs753576283 0.00359
NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val) rs149588872 0.00357
NM_001256864.2(DNAJC6):c.194-18T>G rs201249130 0.00252
NM_001256864.2(DNAJC6):c.2159C>T (p.Ser720Leu) rs143504255 0.00116
NM_001256864.2(DNAJC6):c.397A>T (p.Met133Leu) rs61757223 0.00046
NM_001256864.2(DNAJC6):c.829G>A (p.Ala277Thr) rs146050826 0.00045
NM_001256864.2(DNAJC6):c.1070T>C (p.Met357Thr) rs201840876 0.00015
NM_001256864.2(DNAJC6):c.1039A>G (p.Ile347Val) rs200712827 0.00012
NM_001256864.2(DNAJC6):c.1832C>T (p.Ala611Val) rs375368522 0.00011
NM_001256864.2(DNAJC6):c.2526A>G (p.Leu842=) rs753691766 0.00004
NM_001256864.2(DNAJC6):c.2072A>G (p.Asp691Gly) rs747034717 0.00002
NM_001256864.2(DNAJC6):c.1646C>T (p.Pro549Leu) rs1230286867 0.00001
NM_001256864.2(DNAJC6):c.2468G>A (p.Arg823His) rs201984806 0.00001
NM_001256864.2(DNAJC6):c.2762A>T (p.Gln921Leu) rs1203943853 0.00001
NM_001256864.2(DNAJC6):c.1817A>C (p.His606Pro) rs199937139
NM_001256864.2(DNAJC6):c.1841A>G (p.Gln614Arg)
NM_001256864.2(DNAJC6):c.194-6del rs58549467
NM_001256864.2(DNAJC6):c.2309C>T (p.Ala770Val)
NM_001256864.2(DNAJC6):c.2715G>C (p.Glu905Asp) rs201708707
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter) rs1645867120

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