ClinVar Miner

List of variants reported as pathogenic for Senior-Loken syndrome by Invitae

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_014956.4(CEP164):c.2689C>T (p.Arg897Ter)
NM_014956.4(CEP164):c.381dup (p.Lys128Glnfs)
NM_014956.4(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904
NM_025132.3(WDR19):c.1080delG (p.Ile361Leufs) rs1553907440
NM_025132.3(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363

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