ClinVar Miner

List of variants studied for adenosine kinase deficiency

Included ClinVar conditions (1):
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_006721.4(ADK):c.*648C>T rs1189553 0.82915
NM_006721.4(ADK):c.66-23911C>T rs10824095 0.74804
NM_006721.4(ADK):c.878-71T>C rs10740443 0.69570
NM_006721.4(ADK):c.705T>C (p.Asp235=) rs16931480 0.03126
NM_006721.4(ADK):c.727-11T>C rs12778270 0.01325
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_006721.4(ADK):c.195-18A>G rs144492760 0.00844
NM_006721.4(ADK):c.987T>C (p.Ser329=) rs116653664 0.00468
NM_006721.4(ADK):c.*740C>T rs150465356 0.00276
NM_006721.4(ADK):c.66-24106T>C rs192064997 0.00255
NM_006721.4(ADK):c.*375A>G rs185021662 0.00206
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_006721.4(ADK):c.274-9G>T rs200027642 0.00057
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.66-24289G>A rs571962706 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.-10_4del (p.Met1fs)
NM_006721.4(ADK):c.1031C>T (p.Ala344Val) rs1589387419
NM_006721.4(ADK):c.2T>C (p.Met1Thr)
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.569_570del (p.Thr190fs)
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
NM_006721.4(ADK):c.66-23876T>A
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.704A>C (p.Asp235Ala) rs397514453
NM_006721.4(ADK):c.727-8del rs112610475
NM_006721.4(ADK):c.741T>A (p.Phe247Leu) rs786205458
NM_006721.4(ADK):c.79T>C (p.Phe27Leu)
NM_006721.4(ADK):c.813dup (p.Asn272fs) rs1589286482
NM_006721.4(ADK):c.89G>A (p.Gly30Glu) rs397514454
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
NM_006721.4(ADK):c.953C>A (p.Ala318Glu) rs397514452

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