List of variants studied for Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003680.4(YARS1):c.499C>A (p.Pro167Thr)	rs1279417718	0.00001
NM_003680.4(YARS1):c.1573G>A (p.Gly525Arg)	rs1553122256
NM_003680.4(YARS1):c.611A>C (p.Tyr204Ser)	rs1217293329
NM_003680.4(YARS1):c.638C>T (p.Pro213Leu)	rs1553123702
NM_003680.4(YARS1):c.806T>C (p.Phe269Ser)	rs1653248260

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