List of variants in gene AK2 reported as likely pathogenic for reticular dysgenesis

Minimum submission review status:		Collection method:
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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001625.4(AK2):c.498+1G>A	rs777503956	0.00003
NM_001625.4(AK2):c.307C>T (p.Arg103Trp)	rs267606648
NM_001625.4(AK2):c.524G>C (p.Arg175Pro)	rs1243124080
NM_001625.4(AK2):c.614_615del (p.Gly205fs)	rs746465070

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