ClinVar Miner

List of variants reported as uncertain significance for blood coagulation disease by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000313.4(PROS1):c.1043C>T (p.Ala348Val) rs769125007 0.00007
NM_000130.5(F5):c.6048+5G>T
NM_000132.4(F8):c.1097A>G (p.Asp366Gly)
NM_000312.4(PROC):c.718G>A (p.Ala240Thr) rs2104974763
NM_000312.4(PROC):c.874A>G (p.Ser292Gly)
NM_000312.4(PROC):c.92A>T (p.Glu31Val)
NM_000313.4(PROS1):c.1960G>A (p.Ala654Thr)
NM_000488.4(SERPINC1):c.1231G>C (p.Gly411Arg) rs2102773346
NM_000506.5(F2):c.1156C>A (p.Pro386Thr)
NM_000552.5(VWF):c.148A>G (p.Met50Val) rs2136535487
NM_000552.5(VWF):c.270A>C (p.Glu90Asp)
NM_000552.5(VWF):c.4652C>T (p.Pro1551Leu)
NM_000552.5(VWF):c.571T>G (p.Trp191Gly) rs2136500414
NM_000552.5(VWF):c.7448A>G (p.Tyr2483Cys) rs2136358654

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