ClinVar Miner

List of variants in gene POLR3A reported by Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital

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Total variants: 15
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NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1048+5G>T rs890755853
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) rs1399429058
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755
NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg) rs138305578
NM_007055.4(POLR3A):c.3772_3773del (p.Leu1258fs) rs1564612961
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) rs757209071
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183

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