ClinVar Miner

List of variants studied for seizures-scoliosis-macrocephaly syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) rs754533434 0.00001
NM_207122.2(EXT2):c.340dup (p.Tyr114fs)
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter) rs886039358

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