List of variants in gene combination ACO2, POLR3H 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001098.3(ACO2):c.2282C>T (p.Thr761Met)	rs142767544	0.00013
NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln)	rs200345386	0.00011
NM_001098.3(ACO2):c.1976T>C (p.Val659Ala)
NM_001098.3(ACO2):c.2006C>T (p.Ser669Leu)	rs764832926
NM_001098.3(ACO2):c.2335_2340del (p.Gln779_Gln780del)	rs1601940418

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