ClinVar Miner

List of variants in gene VKORC1 reported as uncertain significance 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: 13
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HGVS dbSNP gnomAD frequency
NM_024006.6(VKORC1):c.202C>T (p.His68Tyr) rs145273772 0.00028
NM_024006.6(VKORC1):c.*245G>A rs886051932 0.00015
NM_024006.6(VKORC1):c.173+11G>T rs201515545 0.00003
NM_024006.6(VKORC1):c.-2T>C rs745707367 0.00002
NM_024006.6(VKORC1):c.379G>A (p.Val127Met) rs777707816 0.00002
NM_024006.6(VKORC1):c.267A>T (p.Thr89=) rs200133418 0.00001
NM_024006.6(VKORC1):c.*10C>G rs2057286230
NM_024006.6(VKORC1):c.*172T>A rs2057284100
NM_024006.6(VKORC1):c.-45G>A rs759852599
NM_024006.6(VKORC1):c.117C>T (p.Tyr39=) rs2057315206
NM_024006.6(VKORC1):c.342C>G (p.Leu114=) rs2057287810
NM_024006.6(VKORC1):c.447T>C (p.Ser149=) rs2057286672
NM_024006.6(VKORC1):c.54G>T (p.Thr18=) rs771891906

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