ClinVar Miner

List of variants in gene POLR3A reported as likely pathogenic

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Total variants: 41
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HGVS dbSNP
NM_007055.3(POLR3A):c.2554A>G rs267608671
NM_007055.3(POLR3A):c.[2554A>G];[367_369delAAG]
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1048+5G>T rs890755853
NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter)
NM_007055.4(POLR3A):c.1572+1G>A rs141484643
NM_007055.4(POLR3A):c.1572+1G>T
NM_007055.4(POLR3A):c.1681C>G (p.Arg561Gly)
NM_007055.4(POLR3A):c.171C>G (p.Asp57Glu) rs1057521176
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
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.1930G>A (p.Glu644Lys) rs755165065
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232
NM_007055.4(POLR3A):c.2025del (p.Ala676fs)
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) rs780839834
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser)
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter) rs750874617
NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln)
NM_007055.4(POLR3A):c.2471A>C (p.His824Pro) rs1564617866
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.2653C>T (p.Gln885Ter) rs1085307939
NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) rs1399429058
NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu) rs747257894
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.3392A>G (p.Lys1131Arg) rs138305578
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter)
NM_007055.4(POLR3A):c.3772_3773del (p.Leu1258fs) rs1564612961
NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln)
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) rs757209071
NM_007055.4(POLR3A):c.3905G>T (p.Gly1302Val)
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

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