ClinVar Miner

List of variants reported as uncertain significance for blood coagulation disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr) rs199623726 0.00016
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00008
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899 0.00004
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000204.5(CFI):c.205A>G (p.Lys69Glu) rs771325547 0.00002
NM_000064.4(C3):c.322G>A (p.Val108Met) rs747923416 0.00001
NM_000204.5(CFI):c.209A>C (p.Asn70Thr) rs749553820 0.00001
NM_001710.6(CFB):c.118G>A (p.Glu40Lys) rs1271096223 0.00001
NM_001710.6(CFB):c.1217G>A (p.Arg406Gln) rs1057516209 0.00001
NM_001710.6(CFB):c.1861G>A (p.Glu621Lys) rs573842877 0.00001
NM_001710.6(CFB):c.427C>T (p.Arg143Cys) rs1242945827 0.00001
NM_000186.4(CFH):c.1336+4A>G rs1573028051
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.2794A>C (p.Lys932Gln) rs1573079762
NM_000186.4(CFH):c.59-10T>G rs1573008794
NM_000204.5(CFI):c.1160C>T (p.Thr387Ile) rs1373768125
NM_000204.5(CFI):c.1355C>A (p.Ala452Asp) rs1579164519
NM_000204.5(CFI):c.184A>G (p.Lys62Glu) rs1393611407
NM_000204.5(CFI):c.850T>G (p.Cys284Gly) rs1483694585
NM_000361.3(THBD):c.1712C>T (p.Thr571Met) rs1166732867
NM_172351.3(CD46):c.101C>T (p.Ala34Val) rs1571578126

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