ClinVar Miner

List of variants reported as likely pathogenic for Arginase deficiency

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Total variants: 15
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HGVS dbSNP
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.372dup (p.Ala125fs) rs776939220
NM_000045.4(ARG1):c.3G>A (p.Met1Ile)
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.703G>A (p.Gly235Arg) rs104893948
NM_000045.4(ARG1):c.787G>T (p.Glu263Ter) rs747579073
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940
NM_000045.4(ARG1):c.874del (p.Thr292fs) rs771395982
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126

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