List of variants in gene AP5Z1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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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.2053C>T (p.Arg685Cys)	rs367867460	0.00017
NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln)	rs750211507	0.00004
NM_014855.3(AP5Z1):c.220G>A (p.Gly74Ser)	rs748218884	0.00002
NM_014855.3(AP5Z1):c.970-4G>A	rs559842146	0.00002
NM_014855.3(AP5Z1):c.2180G>A (p.Arg727Lys)	rs1250099836	0.00001
NM_014855.3(AP5Z1):c.1207A>G (p.Ser403Gly)	rs1583234445
NM_014855.3(AP5Z1):c.196G>A (p.Val66Ile)
NM_014855.3(AP5Z1):c.2248C>T (p.Arg750Trp)	rs376075136
NM_014855.3(AP5Z1):c.2354C>T (p.Thr785Met)	rs567731124
NM_014855.3(AP5Z1):c.2356_2361dup (p.Ala786_Leu787dup)	rs750719570
NM_014855.3(AP5Z1):c.2413A>G (p.Met805Val)
NM_014855.3(AP5Z1):c.664T>A (p.Phe222Ile)	rs1322293814
NM_014855.3(AP5Z1):c.798G>C (p.Arg266Ser)

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