ClinVar Miner

List of variants reported as likely pathogenic for osteocraniostenosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001312909.2(FAM111A):c.1012A>G (p.Thr338Ala) rs587777014
NM_001312909.2(FAM111A):c.1579C>A (p.Pro527Thr) rs587777015
NM_001312909.2(FAM111A):c.1583A>G (p.Asp528Gly) rs587777013
NM_001312909.2(FAM111A):c.931A>T (p.Ile311Phe) rs145826377

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