List of variants in gene ADK reported as uncertain significance for amino acid metabolism disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_006721.4(ADK):c.429C>T (p.Cys143=)	rs142477111	0.00024
NM_006721.4(ADK):c.*349T>C	rs896781492	0.00016
NM_006721.4(ADK):c.66-23885T>A	rs370191448	0.00006
NM_006721.4(ADK):c.66-23966T>C	rs886047235	0.00006
NM_006721.4(ADK):c.*296G>A	rs527621742	0.00004
NM_006721.4(ADK):c.259A>G (p.Ile87Val)	rs201734294	0.00003
NM_006721.4(ADK):c.*337T>G	rs886047238	0.00002
NM_006721.4(ADK):c.*114T>C	rs560409958	0.00001
NM_006721.4(ADK):c.*729T>G	rs1307744498	0.00001
NM_006721.4(ADK):c.220A>G (p.Lys74Glu)	rs201786575	0.00001
NM_006721.4(ADK):c.66-24009G>T	rs886047234	0.00001
NM_006721.4(ADK):c.71A>T (p.Asn24Ile)	rs1271395440	0.00001
NM_006721.4(ADK):c.763-9T>C	rs780824505	0.00001
NM_006721.4(ADK):c.*157G>A	rs886047237
NM_006721.4(ADK):c.374T>C (p.Val125Ala)
NM_006721.4(ADK):c.441C>T (p.Asp147=)	rs886047236
NM_006721.4(ADK):c.494A>C (p.Lys165Thr)	rs1219524919
NM_006721.4(ADK):c.66-23967G>T	rs1842356778
NM_006721.4(ADK):c.66-24083G>C	rs886047233
NM_006721.4(ADK):c.66-24133G>A	rs1036870011
NM_006721.4(ADK):c.66-24151A>T	rs886047232
NM_006721.4(ADK):c.741T>A (p.Phe247Leu)	rs786205458

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