List of variants in gene AK2 reported as benign for Reticular dysgenesis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001625.4(AK2):c.625G>A (p.Ala209Thr)	rs12116440	0.00783
NM_001625.4(AK2):c.386G>A (p.Ser129Asn)	rs61750965	0.00379
NM_001625.4(AK2):c.219+19A>G	rs148975919	0.00349
NM_001625.4(AK2):c.582C>T (p.Thr194=)	rs111261425	0.00338
NM_001625.4(AK2):c.597G>A (p.Glu199=)	rs150186080	0.00123
NM_001625.4(AK2):c.255G>A (p.Lys85=)	rs41301072	0.00111
NM_001625.4(AK2):c.642G>A (p.Gln214=)	rs149659319	0.00099
NM_001625.4(AK2):c.499-11C>T	rs201868300	0.00006
NM_001625.4(AK2):c.330+8G>C	rs781550197	0.00001
NM_001625.4(AK2):c.426-20_426-19del	rs751605899
NM_001625.4(AK2):c.543G>C (p.Lys181Asn)	rs72884305
NM_001625.4(AK2):c.571C>G (p.His191Asp)	rs80324279

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