ClinVar Miner

List of variants in gene PRKN reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_004562.3(PRKN):c.714C>T (p.Cys238=) rs114974496 0.00357
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_004562.3(PRKN):c.799T>C (p.Tyr267His) rs114696251 0.00055
NM_004562.3(PRKN):c.101_102del (p.Gln34fs) rs55777503 0.00027
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp) rs72480423 0.00018
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_004562.3(PRKN):c.837C>T (p.His279=) rs149433924 0.00014
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_004562.3(PRKN):c.*121A>C rs557142572 0.00010
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala) rs141825163 0.00010
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966 0.00006
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_004562.3(PRKN):c.353G>C (p.Gly118Ala) rs144001694 0.00004
NM_004562.3(PRKN):c.1001G>A (p.Arg334His) rs746215864 0.00003
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser) rs1226997153 0.00001
NM_004562.3(PRKN):c.551A>T (p.Asp184Val) rs142383136 0.00001
GRCh37/hg19 6q26(chr6:161969922-161990424)
GRCh37/hg19 6q26(chr6:162206818-162206900)
GRCh37/hg19 6q26(chr6:162394320-162475157)
GRCh37/hg19 6q26(chr6:162475128-162475157)
GRCh37/hg19 6q26(chr6:162622150-162622256)
GRCh37/hg19 6q26(chr6:162622150-162683772)
GRCh37/hg19 6q26(chr6:162683576-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
NM_004562.3(PRKN):c.*140A>G rs1182122095
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3(PRKN):c.172-38dup rs751742289
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter) rs1440010564

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