List of variants in gene combination AK2, LOC129930068 reported as uncertain significance for reticular dysgenesis

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001625.4(AK2):c.49C>G (p.Arg17Gly)	rs138577419	0.00133
NM_001625.4(AK2):c.55G>A (p.Val19Met)	rs761910421	0.00004
NM_001625.4(AK2):c.31G>A (p.Glu11Lys)	rs751145915	0.00001
NM_001625.4(AK2):c.37C>T (p.Pro13Ser)	rs1227064309	0.00001
NM_001625.4(AK2):c.5C>T (p.Ala2Val)	rs1394062153	0.00001
NM_001625.4(AK2):c.35A>G (p.Tyr12Cys)	rs763415295
NM_001625.4(AK2):c.79G>A (p.Gly27Ser)	rs1310763684
NM_001625.4(AK2):c.79G>C (p.Gly27Arg)
NM_001625.4(AK2):c.89C>A (p.Thr30Asn)	rs2124403046

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