List of variants in gene POLR3A reported as pathogenic by MyeliNeuroGene Lab, McGill University Health Center Research Institute

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)	rs267608682	0.00002
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter)	rs780839834	0.00001
NM_007055.4(POLR3A):c.601del (p.Ile201fs)	rs777280350	0.00001
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter)	rs769791060
NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter)	rs1472614573
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs)	rs747683665
NM_007055.4(POLR3A):c.646-665_1185+867del

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