ClinVar Miner

Variants in gene POLR3A with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.927C>T (p.Asp309=) rs41274610 0.00287
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) rs41274600 0.00083
NM_007055.4(POLR3A):c.1910-13A>G rs375882550 0.00041
NM_007055.4(POLR3A):c.1729G>A (p.Glu577Lys) rs151084236 0.00033
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=) rs576629157 0.00003
NM_007055.4(POLR3A):c.1771-5C>G rs199733994
NM_007055.4(POLR3A):c.1771-7C>A rs201314157

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