ClinVar Miner

List of variants studied for Factor XIII, b subunit, deficiency of by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001994.3(F13B):c.1693G>A (p.Ala565Thr) rs2125062488
NM_001994.3(F13B):c.431C>T (p.Pro144Leu) rs1558311941
NM_001994.3(F13B):c.521A>T (p.Asp174Val) rs2125072085
NM_001994.3(F13B):c.565G>T (p.Gly189Ter) rs2125071982
NM_001994.3(F13B):c.625A>G (p.Thr209Ala) rs201594137
NM_001994.3(F13B):c.779G>T (p.Trp260Leu) rs2125071222
NM_001994.3(F13B):c.881A>T (p.His294Leu) rs2125068412

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