ClinVar Miner

List of variants reported as benign for Rothmund-Thomson syndrome by Genome-Nilou Lab

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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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_004260.4(RECQL4):c.3127T>C (p.Leu1043=) rs4925828 0.98841
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro) rs2721190 0.98532
NM_022662.4(ANAPC1):c.1791G>A (p.Leu597=) rs4848197 0.57441
NM_004260.4(RECQL4):c.132A>G (p.Glu44=) rs2306386 0.54741
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_004260.4(RECQL4):c.3502+24G>A rs2279243 0.36505
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
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_004260.4(RECQL4):c.2296del (p.Arg766fs) rs1827625671
NM_022662.4(ANAPC1):c.685+25A>G rs6742515

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