ClinVar Miner

List of variants in gene AK1 studied for anemia (disease)

Included ClinVar conditions (263):
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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_000476.2(AK1):c.118G>A (p.Gly40Arg) rs137853204
NM_000476.2(AK1):c.139del (p.Val47fs) rs387906583
NM_000476.2(AK1):c.190G>A (p.Gly64Arg) rs137853205
NM_000476.2(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000476.2(AK1):c.382C>T (p.Arg128Trp) rs104894101
NM_000476.2(AK1):c.418_420GAC[1] (p.Asp141del) rs387906582
NM_000476.2(AK1):c.491A>G (p.Tyr164Cys) rs137853203

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