List of variants reported as pathogenic for Osteocraniostenosis

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001312909.2(FAM111A):c.1012A>G (p.Thr338Ala)	rs587777014
NM_001312909.2(FAM111A):c.1020TTC[2] (p.Ser343del)	rs1565206032
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.1706G>A (p.Arg569His)	rs587777011

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