ClinVar Miner

List of variants studied for Inversion of nipple; Global developmental delay; Short stature; Failure to thrive; Abnormal facial shape; Agenesis of permanent teeth; Cafe-au-lait spot; Delayed speech and language development; Prominent nose; Numerous nevi; Decreased body weight; Attached earlobe; Prominent digit pad; Hypotonia by Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
46;XX;t(1;2)(q42.3;q24.2)dn

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