List of variants in gene POLR3A reported as pathogenic by Cole/Wambach Lab, Washington University in St. Louis

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	rs141659018	0.00004
NM_007055.4(POLR3A):c.1572+1G>A	rs141484643	0.00003
NM_007055.4(POLR3A):c.2617-1G>A	rs181087667	0.00002
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)	rs774007232	0.00001
NM_007055.4(POLR3A):c.3337-11T>C	rs1564613755	0.00001
NM_007055.4(POLR3A):c.3337-5T>A	rs368905417	0.00001
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile)	rs1168641193

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