ClinVar Miner

List of variants in gene AP5Z1 reported as likely pathogenic

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_014855.3(AP5Z1):c.928C>T (p.Arg310Ter) rs748724870 0.00006
NM_014855.3(AP5Z1):c.1312-2A>G rs989538601 0.00002
NM_014855.3(AP5Z1):c.1543C>T (p.Gln515Ter) rs1342590804 0.00001
NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter) rs767325342 0.00001
NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter) rs751778396 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NC_000007.13:g.(?_4816199)_4825153del
NM_014855.3(AP5Z1):c.1015dup (p.Asp339fs) rs1562408333
NM_014855.3(AP5Z1):c.1132+1_1132+3del rs2115114032
NM_014855.3(AP5Z1):c.1509_1595+26del
NM_014855.3(AP5Z1):c.1707+1G>A
NM_014855.3(AP5Z1):c.1719del (p.Ser574fs) rs1562413480
NM_014855.3(AP5Z1):c.1767dup (p.Leu590fs)
NM_014855.3(AP5Z1):c.179+1G>T rs1186699852
NM_014855.3(AP5Z1):c.1806-1G>C
NM_014855.3(AP5Z1):c.295del (p.Leu99fs) rs2115103191
NM_014855.3(AP5Z1):c.355_358dup (p.Leu120fs) rs1554257381
NM_014855.3(AP5Z1):c.41+812_970del
NM_014855.3(AP5Z1):c.505C>T (p.Gln169Ter)
NM_014855.3(AP5Z1):c.868del (p.Arg290fs) rs756556933
NM_014855.3(AP5Z1):c.931+1G>A rs1583232513
NM_014855.3(AP5Z1):c.970-1G>A
NM_014855.3(AP5Z1):c.970-2A>G
NM_014855.3(AP5Z1):c.970-2_983del rs1562408256

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