List of variants in gene AK2 reported as likely pathogenic for Severe combined immunodeficiency disease

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001625.4(AK2):c.556C>T (p.Arg186Cys)	rs267606645	0.00003
NM_001625.4(AK2):c.330+1G>C	rs1639559794
NM_001625.4(AK2):c.498_499dup (p.Ile167fs)	rs1638975235
NM_001625.4(AK2):c.499-1_499insATGAC (p.Ile167fs)	rs1398317449
NM_001625.4(AK2):c.523C>G (p.Arg175Gly)	rs1375379850
NM_001625.4(AK2):c.600C>G (p.Tyr200Ter)	rs1638959411

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