ClinVar Miner

List of variants in gene POLR2A reported as pathogenic for not provided

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000937.5(POLR2A):c.1370T>C (p.Ile457Thr) rs1597796823
NM_000937.5(POLR2A):c.1524dup (p.Leu509fs)
NM_000937.5(POLR2A):c.2165A>G (p.Asn722Ser) rs2150882831
NM_000937.5(POLR2A):c.3865G>A (p.Glu1289Lys)

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