List of variants in gene combination AP3B2, CPEB1 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001278512.2(AP3B2):c.2394C>T (p.Ser798=)	rs189447069	0.00076
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)	rs200983489	0.00021
NM_001278512.2(AP3B2):c.2422T>C (p.Trp808Arg)	rs202115109	0.00007
NM_001278512.2(AP3B2):c.2189C>G (p.Ser730Cys)	rs761544331	0.00001
NM_001278512.2(AP3B2):c.*94A>C
NM_001278512.2(AP3B2):c.115C>T (p.His39Tyr)	rs2151449528
NM_001278512.2(AP3B2):c.1245+7G>T	rs1596179693
NM_001278512.2(AP3B2):c.1772A>G (p.Gln591Arg)	rs1596170336
NM_001278512.2(AP3B2):c.2047T>G (p.Cys683Gly)	rs1181906403
NM_001278512.2(AP3B2):c.2261+2T>C	rs1555464774

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