ClinVar Miner

List of variants in gene PRKN reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys) rs55830907 0.00191
NM_004562.3(PRKN):c.919C>T (p.Leu307=) rs138920699 0.00076
NM_004562.3(PRKN):c.1137C>T (p.Ala379=) rs761813150 0.00011
NM_004562.3(PRKN):c.270C>T (p.Asn90=) rs767425151 0.00005
NM_004562.3(PRKN):c.720G>A (p.Thr240=) rs769882260 0.00002
NM_004562.3(PRKN):c.1158A>G (p.Thr386=) rs756949723 0.00001
NM_004562.3(PRKN):c.1317C>A (p.Pro439=)
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004562.3(PRKN):c.279A>G (p.Gly93=)
NM_004562.3(PRKN):c.534+30930_534+30933del rs553344388
NM_004562.3(PRKN):c.7+32919T>C

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