ClinVar Miner

List of variants in gene combination ARG1, MED23 reported as 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: 8
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HGVS dbSNP gnomAD frequency
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481 0.04124
NM_000045.4(ARG1):c.594T>C (p.Phe198=) rs149496218 0.00029
NM_000045.4(ARG1):c.912C>T (p.Phe304=) rs373480378 0.00002
NM_000045.4(ARG1):c.130+20del
NM_000045.4(ARG1):c.306-10dup
NM_000045.4(ARG1):c.306-16del rs543245025
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000045.4(ARG1):c.802+76dup rs60712846

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