ClinVar Miner

List of variants studied for MHC class I deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000593.6(TAP1):c.997A>G (p.Ile333Val) rs1057141 0.20047
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) rs1135216 0.17502
NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr) rs111303994 0.01475
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln) rs121917702 0.00096
NM_001290043.2(TAP2):c.1776G>A (p.Met592Ile) rs147150415 0.00073
NM_000593.6(TAP1):c.1927C>T (p.Leu643=) rs41559815 0.00037
NM_001290043.2(TAP2):c.703C>T (p.Arg235Cys) rs145890763 0.00023
NM_000593.6(TAP1):c.437C>T (p.Ala146Val) rs144830209 0.00010
NM_001290043.2(TAP2):c.1087C>T (p.Arg363Trp) rs573005983 0.00009
NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg) rs370260585 0.00001
NM_000593.6(TAP1):c.217T>G (p.Cys73Gly)
NM_003190.5(TAPBP):c.174_175delinsTT (p.Asp59Tyr) rs1554279472
NM_003190.5(TAPBP):c.312del (p.Lys104fs) rs771157811

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