List of variants in gene POLR3A reported as pathogenic by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
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.1771-6C>G	rs115020338
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157

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