ClinVar Miner

List of variants in gene SALL4 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000020.10:g.(?_50400804)_(50401243_?)del
NM_020436.5(SALL4):c.131-2A>G rs2122967143
NM_020436.5(SALL4):c.131-2del rs1568866374
NM_020436.5(SALL4):c.3058del (p.Gln1020fs)
NM_020436.5(SALL4):c.383del (p.Gly128fs) rs2122966358

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