ClinVar Miner

List of variants in gene POLR3A reported as pathogenic

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Total variants: 54
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HGVS dbSNP
NM_007055.3(POLR3A):c.2554A>G rs267608671
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1011G>A (p.Trp337Ter)
NM_007055.4(POLR3A):c.1048+5G>T rs890755853
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter) rs769791060
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) rs267608673
NM_007055.4(POLR3A):c.1572+1G>A rs141484643
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter) rs1472614573
NM_007055.4(POLR3A):c.1740dup (p.Val581fs) rs781745727
NM_007055.4(POLR3A):c.1771-6C>G
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
NM_007055.4(POLR3A):c.1896_1897del (p.Ala633fs)
NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr) rs267608676
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) rs780839834
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) rs267608679
NM_007055.4(POLR3A):c.2323_2329del (p.Asn775fs)
NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile) rs267608672
NM_007055.4(POLR3A):c.2325C>G (p.Asn775Lys) rs1589310432
NM_007055.4(POLR3A):c.2378C>G (p.Ser793Ter)
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.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.3206G>A (p.Arg1069Gln) rs778985686
NM_007055.4(POLR3A):c.3243-1G>A rs1554837782
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124
NM_007055.4(POLR3A):c.3291T>G (p.Tyr1097Ter) rs760408755
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.3583del (p.Asp1195fs) rs747683665
NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter)
NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) rs267608669
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs)
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) rs267608680
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.4006C>T (p.Gln1336Ter) rs267608675
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) rs267608678
NM_007055.4(POLR3A):c.490+1G>A rs1564623882
NM_007055.4(POLR3A):c.491-2A>G rs886041636
NM_007055.4(POLR3A):c.601del (p.Ile201fs) rs777280350
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018
NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter)
NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C]

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