ClinVar Miner

List of variants studied for Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_003680.4(YARS1):c.176T>C (p.Ile59Thr) rs774466323 0.00001
NM_003680.4(YARS1):c.181G>A (p.Asp61Asn) rs776582429 0.00001
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys) rs121908834

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