ClinVar Miner

List of variants in gene POLR1B studied for Treacher Collins syndrome 4

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_019014.6(POLR1B):c.1231A>G (p.Met411Val)
NM_019014.6(POLR1B):c.1496C>T (p.Pro499Leu)
NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg) rs1684443250
NM_019014.6(POLR1B):c.2055C>A (p.Asn685Lys)
NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser) rs1684813071
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys) rs1684813071
NM_019014.6(POLR1B):c.56T>C (p.Leu19Ser)

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