ClinVar Miner

List of variants studied for congenital factor V deficiency by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
NM_000130.5(F5):c.1321C>T (p.Arg441Cys) rs747006175 0.00002
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000130.5(F5):c.5365C>T (p.Arg1789Ter) rs201790842 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys) rs118203910 0.00001
NM_000130.5(F5):c.1297-2A>G rs762646464
NM_000130.5(F5):c.1498T>G (p.Cys500Gly) rs1571581722
NM_000130.5(F5):c.1671G>C (p.Trp557Cys) rs1571578995
NM_000130.5(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000130.5(F5):c.1975G>A (p.Gly659Arg) rs759167620
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.5(F5):c.3170_3174del (p.Asn1057fs) rs1571574574
NM_000130.5(F5):c.333C>A (p.Ser111Arg) rs1571598716
NM_000130.5(F5):c.358A>G (p.Ser120Gly) rs1571598694
NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn) rs1571572228
NM_000130.5(F5):c.773T>C (p.Leu258Pro) rs975505802

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