ClinVar Miner

List of variants in gene PRKN reported as likely pathogenic for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966 0.00006
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg) rs778305273 0.00005
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) rs137853060 0.00002
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser) rs1226997153 0.00001
GRCh37/hg19 6q26(chr6:162206818-162206900)
GRCh37/hg19 6q26(chr6:162475128-162475157)
GRCh37/hg19 6q26(chr6:162683576-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
NC_000006.11:g.(?_162683537)_(162683817_?)dup
NC_000006.12:g.(?_161816395)_(162018868_?)del
NC_000006.12:g.(?_161933685)_(162059574_?)del
NC_000006.12:g.(?_162222675)_(162297617_?)del
NC_000006.12:g.(?_162229459)_(162495982_?)del
NC_000006.12:g.(?_162265361)_(162429333_?)del
NC_000006.12:g.(?_162267721)_(162302278_?)del
NC_000006.12:g.(?_162290852)_(162564693_?)del
NC_000006.12:g.(?_162308970)_(162630627_?)del
NC_000006.12:g.(?_162332720)_(162499424_?)del
NC_000006.12:g.(?_162349019)_(162495982_?)del
NC_000006.12:g.(?_162411708)_(162476625_?)del
NC_000006.12:g.(?_162440726)_(162603304_?)del
NM_004562.3(PRKN):c.1301T>C (p.Met434Thr) rs1582953433
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs) rs746646126
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter) rs1440010564

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