List of variants reported as pathogenic for Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)	rs376054085	0.00003
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)	rs199476349	0.00001
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.586G>A (p.Glu196Lys)	rs121908834
NM_003680.4(YARS1):c.638C>T (p.Pro213Leu)	rs1553123702
NM_003680.4(YARS1):c.806T>C (p.Phe269Ser)	rs1653248260

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