ClinVar Miner

List of variants in gene PCLO reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_033026.6(PCLO):c.248+8C>A rs377422284 0.00045
NM_033026.6(PCLO):c.311G>A (p.Arg104His) rs201699382 0.00045
NM_033026.6(PCLO):c.14209C>A (p.Leu4737Ile) rs199650110 0.00022
NM_033026.6(PCLO):c.6452G>C (p.Arg2151Thr) rs199827159 0.00008
NM_033026.6(PCLO):c.12779T>C (p.Leu4260Pro) rs202008590 0.00004
NM_033026.6(PCLO):c.13420A>G (p.Ser4474Gly) rs199523407 0.00004
NM_033026.6(PCLO):c.12397C>T (p.Arg4133Cys) rs372497499 0.00003
NM_033026.6(PCLO):c.11111C>T (p.Thr3704Met) rs530909855 0.00001
NM_033026.6(PCLO):c.2103A>C (p.Lys701Asn) rs755646536 0.00001
NM_033026.6(PCLO):c.12080C>G (p.Ser4027Ter)
NM_033026.6(PCLO):c.12546C>T (p.Ala4182=)
NM_033026.6(PCLO):c.12709C>G (p.Leu4237Val) rs1554351555
NM_033026.6(PCLO):c.3239C>T (p.Thr1080Ile) rs1584069178
NM_033026.6(PCLO):c.6236G>A (p.Gly2079Glu) rs576675298

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