List of variants reported as likely pathogenic for POLR3A-related disorder

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)	rs267608670	0.00001
NM_007055.4(POLR3A):c.2710G>T (p.Gly904Ter)	rs748548960	0.00001
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn)	rs757209071	0.00001
NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter)	rs1564624254
NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter)	rs1472614573
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
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
NM_007055.4(POLR3A):c.2747del (p.Asp916fs)
NM_007055.4(POLR3A):c.2913dup (p.Phe972fs)	rs772904218

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