ClinVar Miner

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

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Total variants: 8
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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_000129.4(F13A1):c.798+2T>C rs1757581465
NM_000129.4(F13A1):c.820G>C (p.Gly274Arg)

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