ClinVar Miner

List of variants studied for POLR3A-related disorder by PreventionGenetics, part of Exact Sciences

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00565
NM_007055.4(POLR3A):c.741G>A (p.Pro247=) rs12764690 0.00484
NM_007055.4(POLR3A):c.927C>T (p.Asp309=) rs41274610 0.00287
NM_007055.4(POLR3A):c.2196C>T (p.Asn732=) rs148527796 0.00231
NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln) rs143422889 0.00184
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.1227A>G (p.Gln409=) rs144892779 0.00122
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) rs41274600 0.00083
NM_007055.4(POLR3A):c.1729G>A (p.Glu577Lys) rs151084236 0.00031
NM_007055.4(POLR3A):c.3891+9G>A rs377678004 0.00022
NM_007055.4(POLR3A):c.3264G>A (p.Gln1088=) rs142769100 0.00021
NM_007055.4(POLR3A):c.1311A>G (p.Arg437=) rs188441842 0.00014
NM_007055.4(POLR3A):c.3822C>T (p.Thr1274=) rs149961298 0.00010
NM_007055.4(POLR3A):c.3646G>A (p.Glu1216Lys) rs143679064 0.00006
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_007055.4(POLR3A):c.774T>C (p.Pro258=) rs144576999 0.00004
NM_007055.4(POLR3A):c.1110G>A (p.Ser370=) rs779006717 0.00003
NM_007055.4(POLR3A):c.3285G>A (p.Ala1095=) rs372155738 0.00002
NM_007055.4(POLR3A):c.1716G>T (p.Leu572=) rs199523517 0.00001
NM_007055.4(POLR3A):c.1909+20G>A rs1189488542 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.2031A>G (p.Ala677=) rs562035665 0.00001
NM_007055.4(POLR3A):c.2559C>T (p.Ala853=) rs200663916 0.00001
NM_007055.4(POLR3A):c.3282C>T (p.Asp1094=) rs557203539 0.00001
NM_007055.4(POLR3A):c.3561C>T (p.Tyr1187=) rs761661211 0.00001
NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter) rs1564624254
NM_007055.4(POLR3A):c.1572+1297_1572+1304del rs761867573
NM_007055.4(POLR3A):c.1611G>T (p.Pro537=) rs757260872
NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter) rs1472614573
NM_007055.4(POLR3A):c.1771-11dup rs544204280
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1791A>G (p.Gly597=) rs374732894
NM_007055.4(POLR3A):c.2085T>C (p.Gly695=) rs2493213200
NM_007055.4(POLR3A):c.2577C>T (p.Val859=) rs142657005
NM_007055.4(POLR3A):c.275G>A (p.Cys92Tyr) rs200952070
NM_007055.4(POLR3A):c.2913dup (p.Phe972fs) rs772904218
NM_007055.4(POLR3A):c.399C>T (p.Gly133=) rs927423608
NM_007055.4(POLR3A):c.4083G>A (p.Lys1361=) rs1847101523

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