ClinVar Miner

List of variants reported as uncertain significance for Tongue tie; Coarctation of aorta; Atrial septal defect; Heart block; Clinodactyly of the 5th finger; Generalized hypotonia; Delayed gross motor development; Bronchomalacia; Sagittal craniosynostosis; Bilateral single transverse palmar creases; Bicoronal synostosis; Ventricular septal defect by CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles

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Total variants: 3
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HGVS dbSNP
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829
NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) rs749541061
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) rs560246798

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