ClinVar Miner

List of variants reported as uncertain significance for factor XIII deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000129.4(F13A1):c.1531G>A (p.Gly511Ser) rs1178415419 0.00002
NM_000129.4(F13A1):c.1297T>G (p.Phe433Val) rs1761279176
NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala) rs1458190494
NM_000129.4(F13A1):c.186G>C (p.Lys62Asn) rs2113184204
NM_000129.4(F13A1):c.1909G>A (p.Val637Ile) rs1483793682
NM_000129.4(F13A1):c.787G>A (p.Gly263Arg) rs1414492888
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.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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