List of variants reported as benign for Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001330588.2(TPP2):c.780T>C (p.Ser260=)	rs2230854	0.50210
NM_001330588.2(TPP2):c.3240+19G>A	rs7334625	0.50186
NM_001330588.2(TPP2):c.1837-15G>A	rs614290	0.50108
NM_001330588.2(TPP2):c.620+10G>A	rs4576935	0.50076
NM_001330588.2(TPP2):c.1245-20T>A	rs2274461	0.15199
NM_001330588.2(TPP2):c.3594A>G (p.Ala1198=)	rs2230856	0.08879
NM_001330588.2(TPP2):c.2952+10A>G	rs2053868	0.00566
NM_001330588.2(TPP2):c.1393+9G>A	rs115050878	0.00392
NM_001330588.2(TPP2):c.1534G>A (p.Val512Ile)	rs73578896	0.00339
NM_001330588.2(TPP2):c.1902T>C (p.Val634=)	rs148056679	0.00333
NM_001330588.2(TPP2):c.121G>A (p.Ala41Thr)	rs200366836	0.00201
NM_001330588.2(TPP2):c.3168C>T (p.Asn1056=)	rs141975686	0.00089
NM_001330588.2(TPP2):c.666C>T (p.Thr222=)	rs149008480	0.00084
NM_001330588.2(TPP2):c.193G>A (p.Val65Ile)	rs560814385	0.00046
NM_001330588.2(TPP2):c.483C>T (p.Asn161=)	rs539406402	0.00004
NM_001330588.2(TPP2):c.1452C>T (p.Asn484=)	rs549681730	0.00001
NM_001330588.2(TPP2):c.2889A>G (p.Ala963=)	rs534078125	0.00001
NM_001330588.2(TPP2):c.1144+16del	rs1346501462
NM_001330588.2(TPP2):c.166-4dup
NM_001330588.2(TPP2):c.1837-5dup
NM_001330588.2(TPP2):c.2021-20TTCT[2]	rs3831119
NM_001330588.2(TPP2):c.2628+23del
NM_001330588.2(TPP2):c.2629-4del	rs2139546339
NM_001330588.2(TPP2):c.295-7del
NM_001330588.2(TPP2):c.295-7dup	rs544736600
NM_001330588.2(TPP2):c.2952+17dup

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