List of variants reported as likely pathogenic for Arginase deficiency by Counsyl

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)	rs104893940	0.00003
NM_000045.4(ARG1):c.372dup (p.Ala125fs)	rs776939220	0.00001
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)	rs104893948	0.00001
NM_000045.4(ARG1):c.129del (p.Glu44fs)	rs1169538148
NM_000045.4(ARG1):c.130+1G>T	rs113767658
NM_000045.4(ARG1):c.272dup (p.Arg92fs)	rs796051923
NM_000045.4(ARG1):c.2T>C (p.Met1Thr)	rs1554249332
NM_000045.4(ARG1):c.466-2A>G	rs1554251045
NM_000045.4(ARG1):c.58-2A>C	rs1554250040
NM_000045.4(ARG1):c.640_643dup (p.Thr215fs)	rs1554251158
NM_000045.4(ARG1):c.693del (p.Phe231fs)	rs1554251191
NM_000045.4(ARG1):c.787G>T (p.Glu263Ter)	rs747579073
NM_000045.4(ARG1):c.874del (p.Thr292fs)	rs771395982

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