ClinVar Miner

List of variants in gene POLR3A reported as likely pathogenic for not provided

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser) rs771786550 0.00002
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) rs267608682 0.00002
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) rs200118797 0.00002
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) rs780839834 0.00001
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter) rs750874617 0.00001
NM_007055.4(POLR3A):c.3337-5T>A rs368905417 0.00001
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter) rs755978559 0.00001
NM_007055.4(POLR3A):c.1048+1G>A rs2131958310
NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter) rs1564624254
NM_007055.4(POLR3A):c.1289+2T>C
NM_007055.4(POLR3A):c.1432-1G>A
NM_007055.4(POLR3A):c.1572+1G>T rs141484643
NM_007055.4(POLR3A):c.1573-1G>A rs2131950121
NM_007055.4(POLR3A):c.1681C>G (p.Arg561Gly) rs1472614573
NM_007055.4(POLR3A):c.171C>G (p.Asp57Glu) rs1057521176
NM_007055.4(POLR3A):c.1770+1G>A rs777345393
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg) rs1446265632
NM_007055.4(POLR3A):c.2025del (p.Ala676fs) rs1847424990
NM_007055.4(POLR3A):c.2248-1G>C
NM_007055.4(POLR3A):c.2360-2A>G
NM_007055.4(POLR3A):c.2533A>G (p.Thr845Ala)
NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu) rs1847342207
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2653C>T (p.Gln885Ter) rs1085307939
NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu) rs747257894
NM_007055.4(POLR3A):c.2787+1G>A rs2131937028
NM_007055.4(POLR3A):c.2809G>A (p.Glu937Lys) rs1554838298
NM_007055.4(POLR3A):c.2988+1G>A rs201733323
NM_007055.4(POLR3A):c.2988+1G>T rs201733323
NM_007055.4(POLR3A):c.3071+2T>G
NM_007055.4(POLR3A):c.3072-1G>T rs1847186675
NM_007055.4(POLR3A):c.3337-1G>A rs1041175828
NM_007055.4(POLR3A):c.3891+2T>C rs2131926729

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