ClinVar Miner

List of variants in gene F10 reported as likely pathogenic for congenital vitamin K-dependent coagulation factors deficiency

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000504.4(F10):c.1351A>C (p.Ile451Leu) rs369872236 0.00011
NM_000504.4(F10):c.1097G>A (p.Arg366His) rs143715673 0.00005
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 0.00001
NM_000504.4(F10):c.161A>G (p.Glu54Gly) rs121964944 0.00001
NM_000504.4(F10):c.400G>A (p.Gly134Arg) rs368225671 0.00001
NM_000504.4(F10):c.1036C>T (p.Arg346Cys)
NM_000504.4(F10):c.1087G>A (p.Gly363Ser) rs1595099527
NM_000504.4(F10):c.119G>C (p.Arg40Thr)
NM_000504.4(F10):c.1210T>C (p.Cys404Arg) rs1595099645
NM_000504.4(F10):c.1252G>C (p.Asp418His) rs2138557799
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.167A>G (p.Glu56Gly)
NM_000504.4(F10):c.205G>A (p.Glu69Lys) rs1325135019
NM_000504.4(F10):c.212T>C (p.Phe71Ser)
NM_000504.4(F10):c.232-2563_503-451del
NM_000504.4(F10):c.248_251del (p.Lys83fs)
NM_000504.4(F10):c.256G>A (p.Asp86Asn)
NM_000504.4(F10):c.270T>A (p.Cys90Ter)
NM_000504.4(F10):c.299_300del (p.Lys100fs)
NM_000504.4(F10):c.305_306del (p.Lys102fs)

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