List of variants reported as likely pathogenic for Hyperammonemia, type III by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)	rs761558985	0.00004
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
NM_153006.3(NAGS):c.458del (p.Gly153fs)
NM_153006.3(NAGS):c.702-1G>C
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)

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