List of variants reported as likely pathogenic for POLR3A-related disorder by Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn)	rs757209071	0.00001
NM_007055.4(POLR3A):c.1862G>A (p.Gly621Asp)	rs757718124
NM_007055.4(POLR3A):c.2113C>G (p.Pro705Ala)	rs2493213156
NM_007055.4(POLR3A):c.251G>A (p.Gly84Glu)	rs1847626648

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