List of variants in gene combination AK1, ST6GALNAC4-ST6GALNAC6-AK1 reported as pathogenic for anemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000476.3(AK1):c.118G>A (p.Gly40Arg)	rs137853204	0.00001
NM_000476.3(AK1):c.190G>A (p.Gly64Arg)	rs137853205	0.00001
NM_000476.3(AK1):c.139del (p.Val47fs)	rs387906583
NM_000476.3(AK1):c.301C>A (p.Gln101Lys)	rs2131401746
NM_000476.3(AK1):c.319C>T (p.Arg107Ter)	rs104894102
NM_000476.3(AK1):c.382C>T (p.Arg128Trp)	rs104894101
NM_000476.3(AK1):c.418GAC[1] (p.Asp141del)	rs387906582
NM_000476.3(AK1):c.491A>G (p.Tyr164Cys)	rs137853203

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