ClinVar Miner

List of variants in gene combination LOC107648851, TAP2 reported as likely benign for MHC class I deficiency

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.537C>T (p.Ile179=) rs150583253 0.00039
NM_001290043.2(TAP2):c.684G>A (p.Gln228=) rs760549490 0.00004
NM_001290043.2(TAP2):c.739+19G>T rs764261291 0.00003
NM_001290043.2(TAP2):c.609-19T>C rs778623201 0.00002
NM_001290043.2(TAP2):c.714C>T (p.Leu238=) rs539200475 0.00002
NM_001290043.2(TAP2):c.576C>T (p.Ala192=) rs370372252 0.00001
NM_001290043.2(TAP2):c.608+15G>T rs772360977 0.00001
NM_001290043.2(TAP2):c.739+10G>A rs781718817 0.00001
NM_001290043.2(TAP2):c.494-10C>T
NM_001290043.2(TAP2):c.494-13A>G rs757984250
NM_001290043.2(TAP2):c.552T>C (p.Phe184=)
NM_001290043.2(TAP2):c.591C>T (p.Cys197=)
NM_001290043.2(TAP2):c.594C>G (p.Leu198=)
NM_001290043.2(TAP2):c.609-14C>T
NM_001290043.2(TAP2):c.609-16T>C
NM_001290043.2(TAP2):c.609-7C>T
NM_001290043.2(TAP2):c.667T>C (p.Leu223=)
NM_001290043.2(TAP2):c.672G>T (p.Arg224=) rs776829392
NM_001290043.2(TAP2):c.687T>G (p.Leu229=)
NM_001290043.2(TAP2):c.690C>T (p.Phe230=)
NM_001290043.2(TAP2):c.739+18G>C
NM_001290043.2(TAP2):c.739+20T>A
NM_001290043.2(TAP2):c.739+9T>G rs2127363892

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