ClinVar Miner

List of variants studied for Leukocyte adhesion deficiency 3 by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00012
NM_031471.6(FERMT3):c.1275del (p.Glu426fs) rs775138431 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter) rs121918295
NM_031471.6(FERMT3):c.161-2A>C rs1286499329
NM_031471.6(FERMT3):c.1671-2A>G rs2134903776
NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter) rs121918296
NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter) rs121918298

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