ClinVar Miner

List of variants in gene AP5Z1 reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.*2623A>C rs2880933 0.31879
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_014855.3(AP5Z1):c.1707+11T>C rs3750012 0.17011
NM_014855.3(AP5Z1):c.512-7A>G rs73305371 0.07873
NM_014855.3(AP5Z1):c.*45A>G rs12154545 0.06846
NM_014855.3(AP5Z1):c.970-13C>T rs73305376 0.06374
NM_014855.3(AP5Z1):c.1377C>T (p.Asp459=) rs17135128 0.06038
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) rs11772411 0.05021
NM_014855.3(AP5Z1):c.1131C>T (p.His377=) rs11768079 0.04978
NM_014855.3(AP5Z1):c.1939-9C>T rs73305392 0.04460
NM_014855.3(AP5Z1):c.*659G>A rs140612456 0.03865
NM_014855.3(AP5Z1):c.*2841A>G rs62453211 0.03480
NM_014855.3(AP5Z1):c.*2599T>C rs143539039 0.02522
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=) rs77560694 0.02284
NM_014855.3(AP5Z1):c.1708-14C>T rs118139547 0.02183
NM_014855.3(AP5Z1):c.*2849G>T rs149076549 0.02042
NM_014855.3(AP5Z1):c.*2501G>A rs115452328 0.01978
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln) rs77890266 0.01561
NM_014855.3(AP5Z1):c.*1594C>A rs138654444 0.01555
NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=) rs111358719 0.01503
NM_014855.3(AP5Z1):c.1806-12C>T rs78959612

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