ClinVar Miner

List of variants in gene ARG1 reported as likely benign for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000045.4(ARG1):c.6C>T (p.Ser2=) rs138584410 0.00002
NM_000045.4(ARG1):c.42T>A (p.Pro14=) rs939256919 0.00001
NM_000045.4(ARG1):c.30T>C (p.Ile10=)
NM_000045.4(ARG1):c.42T>G (p.Pro14=)
NM_000045.4(ARG1):c.48A>C (p.Ser16=) rs1585391263
NM_000045.4(ARG1):c.54A>G (p.Gly18=)
NM_000045.4(ARG1):c.57+12A>G
NM_000045.4(ARG1):c.57+12A>T
NM_000045.4(ARG1):c.57+18dup
NM_000045.4(ARG1):c.57+20T>C
NM_000045.4(ARG1):c.57+7A>G
NM_000045.4(ARG1):c.9C>G (p.Ala3=)

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