ClinVar Miner

List of variants reported as uncertain significance for craniosynostosis by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_004260.4(RECQL4):c.1132-8C>A rs370660188 0.00010
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00001
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met) rs780282337 0.00001
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)

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