ClinVar Miner

List of variants in gene POLR3A reported as likely pathogenic by GeneDx

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Total variants: 8
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HGVS dbSNP
NM_007055.3(POLR3A):c.2554A>G rs267608671
NM_007055.4(POLR3A):c.171C>G (p.Asp57Glu) rs1057521176
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) rs780839834
NM_007055.4(POLR3A):c.2653C>T (p.Gln885Ter) rs1085307939
NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu) rs747257894
NM_007055.4(POLR3A):c.3337-5T>A rs368905417

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