ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_000504.4(F10):c.1087G>A (p.Gly363Ser) rs1595099527
NM_000504.4(F10):c.1210T>C (p.Cys404Arg) rs1595099645
NM_000504.4(F10):c.1237G>A (p.Asp413Asn) rs1595099677
NM_000504.4(F10):c.1321G>A (p.Glu441Lys) rs1305872315
NM_000504.4(F10):c.1348G>A (p.Gly450Arg) rs1595099844
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.161A>G (p.Glu54Gly) rs121964944
NM_000504.4(F10):c.241T>G (p.Trp81Gly) rs1595092916
NM_000504.4(F10):c.400G>A (p.Gly134Arg) rs368225671
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000504.4(F10):c.535C>T (p.Arg179Cys) rs1277295882
NM_000504.4(F10):c.702G>C (p.Arg234Ser) rs1595096266
Single allele

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