ClinVar Miner

List of variants studied for coagulation protein disease by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_019616.4(F7):c.403G>A (p.Gly135Ser) rs763458490 0.00004
NM_019616.4(F7):c.1105G>A (p.Gly369Ser) rs190485816 0.00001
NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)
NM_000130.5(F5):c.6048+5G>T
NM_000132.4(F8):c.2045T>C (p.Val682Ala)
NM_000132.4(F8):c.639_651dup (p.Phe218fs) rs2124134352
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)
NM_000133.4(F9):c.1084A>G (p.Lys362Glu)
NM_000133.4(F9):c.68T>C (p.Leu23Pro)
NM_000133.4(F9):c.871G>C (p.Glu291Gln)
NM_000133.4(F9):c.959A>G (p.Glu320Gly)
NM_000506.5(F2):c.1088G>A (p.Arg363His)
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
NM_019616.4(F7):c.857T>C (p.Leu286Pro) rs2142232799
NM_019616.4(F7):c.86C>A (p.Ala29Asp) rs2036074360

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