List of variants in gene POLR3A reported as pathogenic 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)	rs148932047	0.00004
NM_007055.4(POLR3A):c.2617-1G>A	rs181087667	0.00002
NM_007055.4(POLR3A):c.3337-11T>C	rs1564613755	0.00001
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
NM_007055.4(POLR3A):c.2561del (p.Gly854fs)

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