ClinVar Miner

List of variants reported as likely pathogenic for Matthew-Wood syndrome by Genetics Department, University Hospital of Toulouse

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000965.5(RARB):c.1151G>A (p.Gly384Asp) rs1701834292
NM_006744.4(RBP4):c.569-1G>A rs2058270689

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