ClinVar Miner

List of variants reported as likely benign for Reticular dysgenesis

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001625.4(AK2):c.460G>A (p.Glu154Lys) rs148421308 0.00208
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419 0.00133
NM_001625.4(AK2):c.624C>T (p.Ser208=) rs779366586 0.00045
NM_001625.4(AK2):c.603C>T (p.Tyr201=) rs138151595 0.00034
NM_001625.4(AK2):c.611G>A (p.Arg204Gln) rs200179721 0.00026
NM_001625.4(AK2):c.648C>T (p.Pro216=) rs201622956 0.00015
NM_001625.4(AK2):c.333C>T (p.Leu111=) rs200433299 0.00014
NM_001625.4(AK2):c.117C>T (p.Phe39=) rs764509277 0.00011
NM_001625.4(AK2):c.504C>T (p.Thr168=) rs61750964 0.00008
NM_001625.4(AK2):c.171C>A (p.Gly57=) rs61755973 0.00007
NM_001625.4(AK2):c.660C>T (p.Phe220=) rs566166581 0.00006
NM_001625.4(AK2):c.615G>C (p.Gly205=) rs769651837 0.00005
NM_001625.4(AK2):c.25G>A (p.Glu9Lys) rs267606647 0.00003
NM_001625.4(AK2):c.438C>T (p.Pro146=) rs987764285 0.00003
NM_001625.4(AK2):c.499-8G>T rs752613147 0.00003
NM_001625.4(AK2):c.93+17G>A rs779763748 0.00003
NM_001625.4(AK2):c.331-11T>C rs184410375 0.00002
NM_001625.4(AK2):c.498C>T (p.Asp166=) rs747101216 0.00002
NM_001625.4(AK2):c.57G>A (p.Val19=) rs371268140 0.00002
NM_001625.4(AK2):c.162G>A (p.Val54=) rs1227843304 0.00001
NM_001625.4(AK2):c.202A>G (p.Met68Val) rs548856916 0.00001
NM_001625.4(AK2):c.220-7C>T rs1195194137 0.00001
NM_001625.4(AK2):c.499-13T>C rs749143789 0.00001
NM_001625.4(AK2):c.499-5C>T rs1421627521 0.00001
NM_001625.4(AK2):c.129T>C (p.His43=)
NM_001625.4(AK2):c.132A>G (p.Leu44=)
NM_001625.4(AK2):c.141G>T (p.Gly47=)
NM_001625.4(AK2):c.165T>C (p.Ala55=)
NM_001625.4(AK2):c.216A>G (p.Lys72=) rs2124345022
NM_001625.4(AK2):c.219+16C>T
NM_001625.4(AK2):c.219+20T>A rs377400886
NM_001625.4(AK2):c.219+20T>C
NM_001625.4(AK2):c.220-12C>T
NM_001625.4(AK2):c.220-5del rs752085550
NM_001625.4(AK2):c.330+18T>C
NM_001625.4(AK2):c.331-12A>G rs2124328960
NM_001625.4(AK2):c.331-15C>T
NM_001625.4(AK2):c.343A>T (p.Met115Leu) rs552302095
NM_001625.4(AK2):c.425+14G>C
NM_001625.4(AK2):c.426-17_426-14del
NM_001625.4(AK2):c.426-19T>C
NM_001625.4(AK2):c.429G>C (p.Leu143=)
NM_001625.4(AK2):c.453C>A (p.Ser151=)
NM_001625.4(AK2):c.465G>A (p.Glu155=)
NM_001625.4(AK2):c.471C>T (p.Asn157=)
NM_001625.4(AK2):c.498+14G>A
NM_001625.4(AK2):c.498+14G>T
NM_001625.4(AK2):c.49C>A (p.Arg17=)
NM_001625.4(AK2):c.60G>A (p.Leu20=) rs1207555639
NM_001625.4(AK2):c.630C>T (p.Ile210=) rs746330303
NM_001625.4(AK2):c.654C>T (p.Val218=) rs765292604
NM_001625.4(AK2):c.87G>A (p.Gly29=)
NM_001625.4(AK2):c.94-8C>G
NM_001625.4(AK2):c.9C>T (p.Pro3=) rs2124403783

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