ClinVar Miner

List of variants studied for craniofacial dysplasia - osteopenia syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005853.6(IRX5):c.448G>C (p.Ala150Pro) rs387907198
NM_005853.6(IRX5):c.498C>A (p.Asn166Lys) rs786200931
NM_005853.6(IRX5):c.503G>A (p.Arg168His) rs2142353982

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