ClinVar Miner

List of variants reported as uncertain significance for coagulation protein disease by Natera, Inc.

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.54C>T (p.Cys18=) rs1337284408 0.00002
NM_000133.4(F9):c.1210A>G (p.Arg404Gly) rs1390673858 0.00001
NM_000133.4(F9):c.122T>G (p.Leu41Arg) rs371373268 0.00001
NM_000133.4(F9):c.517G>A (p.Ala173Thr) rs865782271
NM_000133.4(F9):c.584T>A (p.Val195Asp) rs374674030

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