ClinVar Miner

List of variants reported as pathogenic for amino acid metabolism disease by SNPedia

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.524+2T>G rs869312976 0.00002
NM_000048.3(ASL):c.292delG rs869312987
NM_000048.4(ASL):c.1122dup (p.Tyr375fs) rs869312993
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter) rs869312994
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.257A>C (p.Glu86Ala) rs869312986
NM_000048.4(ASL):c.461T>C (p.Leu154Pro) rs869312988
NM_000048.4(ASL):c.575_580dup (p.Lys192_Arg193dup) rs869312989
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.762C>A (p.Ser254Arg) rs869312991
NM_000048.4(ASL):c.889C>T (p.Arg297Trp) rs869312992

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