ClinVar Miner

List of variants in gene POLR3A reported as pathogenic for Wiedemann-Rautenstrauch syndrome

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Total variants: 18
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HGVS dbSNP
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1048+5G>T rs890755853
NM_007055.4(POLR3A):c.1572+1G>A rs141484643
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755
NM_007055.4(POLR3A):c.3337-1G>A rs1041175828
NM_007055.4(POLR3A):c.3337-5T>A rs368905417
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183
NM_007055.4(POLR3A):c.490+1G>A rs1564623882
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018
POLR3A, IVS14, G-A, +22 (rs191875469) AND IVS25, T-C, -11

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