List of variants in gene TPP2 studied for Immunodeficiency 78 with autoimmunity and developmental delay

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001330588.2(TPP2):c.3074A>G (p.Glu1025Gly)	rs199569052	0.00016
NM_001330588.2(TPP2):c.2402G>A (p.Ser801Asn)	rs140329690	0.00010
NM_001330588.2(TPP2):c.3461A>C (p.Gln1154Pro)	rs199702252	0.00010
NM_001330588.2(TPP2):c.1270A>G (p.Ile424Val)	rs146267750	0.00007
NM_001330588.2(TPP2):c.2237T>A (p.Ile746Asn)	rs148250766	0.00004
NM_001330588.2(TPP2):c.1016+17A>G	rs536710684	0.00001
NM_001330588.2(TPP2):c.2027C>T (p.Thr676Ile)	rs760347832	0.00001
NM_001330588.2(TPP2):c.1499G>A (p.Gly500Asp)	rs1882325267
NM_001330588.2(TPP2):c.2137C>A (p.Pro713Thr)	rs2504012862
NM_001330588.2(TPP2):c.2343C>G (p.Tyr781Ter)	rs1039236504
NM_001330588.2(TPP2):c.2394-550_2952+659del
NM_001330588.2(TPP2):c.3136A>G (p.Met1046Val)	rs2139571721
NM_001330588.2(TPP2):c.433del (p.Ala145fs)	rs1880737834
NM_001330588.2(TPP2):c.82T>G (p.Cys28Gly)	rs1879008406

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