ClinVar Miner

List of variants reported as pathogenic for Legius syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313 0.00001
NM_152594.3(SPRED1):c.475del (p.Gln159fs) rs2141007796
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter)

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