ClinVar Miner

List of variants reported as benign for acrocapitofemoral dysplasia by Genome-Nilou Lab

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002181.4(IHH):c.1128T>C (p.Thr376=)	rs394452	0.85910
NM_002181.4(IHH):c.753T>C (p.Pro251=)	rs3731881	0.58582
NM_002181.4(IHH):c.600G>A (p.Thr200=)	rs3731878	0.10242

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