ClinVar Miner

List of variants in gene POLR1D reported as pathogenic for Treacher Collins syndrome 2

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP
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.259C>T (p.Arg87Ter) rs1593275599
NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs) rs1593275616
NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs) rs1593275363
POLR1D, 2-BP DEL, 326CA

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