ClinVar Miner

List of variants studied for Treacher Collins syndrome 2

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_152705.3(POLR1D):c.249G>A (p.Pro83=) rs14105 0.37744
NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys) rs767196650
NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg) rs1593275448
NM_015972.4(POLR1D):c.163C>G (p.Leu55Val) rs587777841
NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala) rs1955966967
NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter) rs1593275599
NM_015972.4(POLR1D):c.261del (p.Gly88fs) rs2138519077
NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs) rs1593275616
NM_015972.4(POLR1D):c.326_327del (p.His109fs) rs2138519194
NM_015972.4(POLR1D):c.60dup (p.Gly21fs)
NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs) rs1593275363
NM_015972.4(POLR1D):c.89_117del (p.Val30fs)
NM_152705.3(POLR1D):c.219G>C (p.Ala73=) rs11029

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