ClinVar Miner

List of variants in gene AP5Z1 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly) rs113184057 0.00073
NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp) rs374146548 0.00072
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg) rs117659667 0.00044
NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr) rs200490093 0.00038
NM_014855.3(AP5Z1):c.2387G>A (p.Arg796Gln) rs199981070 0.00022
NM_014855.3(AP5Z1):c.2060C>G (p.Ser687Cys) rs201478168 0.00019
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys) rs367867460 0.00017
NM_014855.3(AP5Z1):c.1601C>T (p.Ala534Val) rs764332870 0.00016
NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val) rs199930373 0.00011
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) rs775883752 0.00009
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_014855.3(AP5Z1):c.1360C>T (p.Leu454Phe) rs371402624 0.00006
NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys) rs199745141 0.00006
NM_014855.3(AP5Z1):c.176G>A (p.Arg59Gln) rs200423282 0.00003
NM_014855.3(AP5Z1):c.1979G>A (p.Arg660Gln) rs370999116 0.00003
NM_014855.3(AP5Z1):c.2018C>T (p.Ala673Val) rs754422151 0.00003
NM_014855.3(AP5Z1):c.2015A>C (p.Glu672Ala) rs370660240 0.00001
NM_014855.3(AP5Z1):c.2345A>G (p.Asp782Gly) rs779642265 0.00001
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val) rs372539355 0.00001
NM_014855.3(AP5Z1):c.1073_1099del (p.Arg358_Val366del) rs1339701497
NM_014855.3(AP5Z1):c.1618C>T (p.Leu540=) rs1781648313
NM_014855.3(AP5Z1):c.1795G>T (p.Gly599Cys) rs369917291
NM_014855.3(AP5Z1):c.2167C>T (p.Leu723=) rs2115130676
NM_014855.3(AP5Z1):c.2278_2280dup (p.Met760dup) rs1554259059
NM_014855.3(AP5Z1):c.553C>T (p.Arg185Cys)
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro) rs554060393

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