List of variants in gene POLR1B reported as pathogenic for Treacher-Collins syndrome

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg)	rs1684443250
NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser)	rs1684813071
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys)	rs1684813071

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