ClinVar Miner

List of variants reported as uncertain significance for atypical juvenile parkinsonism by Genome-Nilou Lab

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
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.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.2309C>T (p.Ala770Val)
NM_001256864.2(DNAJC6):c.2715G>C (p.Glu905Asp) rs201708707

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