ClinVar Miner

List of variants in gene OFD1 reported as uncertain significance by Human Developmental Genetics, Institut Pasteur

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.950A>G (p.Gln317Arg)	rs2146992262
NM_003611.3(OFD1):c.951G>T (p.Gln317His)	rs2047489418

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