List of variants in gene POLR1C reported as likely pathogenic for POLR1C-related disorder

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_203290.4(POLR1C):c.326G>A (p.Arg109His)	rs796052127	0.00002
NM_203290.4(POLR1C):c.922+2T>C	rs778556895	0.00001
NM_203290.4(POLR1C):c.438C>A (p.Cys146Ter)
NM_203290.4(POLR1C):c.685del (p.Ala229fs)	rs2482891698

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