ClinVar Miner

List of variants in gene ANAPC1 reported as benign for Rothmund-Thomson syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_022662.4(ANAPC1):c.5373C>A (p.Ile1791=) rs939797 0.99776
NM_022662.4(ANAPC1):c.1651-23A>G rs4848800 0.99624
NM_022662.4(ANAPC1):c.1791G>A (p.Leu597=) rs4848197 0.57441
NM_022662.4(ANAPC1):c.*2C>T rs1044864 0.17605
NM_022662.4(ANAPC1):c.4341G>A (p.Pro1447=) rs56780932 0.16173
NM_022662.4(ANAPC1):c.2513C>T (p.Thr838Met) rs147457004 0.00824
NM_022662.4(ANAPC1):c.685+25A>G rs6742515

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