ClinVar Miner

List of variants in gene POLR3A reported as pathogenic by GeneReviews

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Total variants: 17
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NM_007055.3(POLR3A):c.2554A>G rs267608671
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) rs267608673
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr) rs267608676
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) rs267608679
NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile) rs267608672
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn) rs267608681
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter) rs267608674
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) rs267608682
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) rs200118797
NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) rs267608669
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) rs267608680
NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter) rs267608675
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) rs267608678

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