List of variants in gene OFD1 reported as likely pathogenic for bone development disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.1055+1G>T
NM_003611.3(OFD1):c.1597_1598del (p.Lys533fs)
NM_003611.3(OFD1):c.1604dup (p.Leu535fs)
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
NM_003611.3(OFD1):c.2004G>C (p.Lys668Asn)
NM_003611.3(OFD1):c.2387+1G>A	rs2047914412
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter)	rs2147060430
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del)	rs1131691889
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)	rs1555904005

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