ClinVar Miner

List of variants reported as likely pathogenic for coagulation protein disease by Invitae

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000133.4(F9):c.149G>C (p.Gly50Ala) rs1229048705 0.00001
NM_000130.5(F5):c.1396+2T>C
NM_000130.5(F5):c.1619C>T (p.Ala540Val)
NM_000130.5(F5):c.373+1G>A
NM_000130.5(F5):c.374-2del
NM_000130.5(F5):c.4962_4971+3del
NM_000130.5(F5):c.5209-2A>G
NM_000130.5(F5):c.5420-63_5554delinsG
NM_000130.5(F5):c.5789-1G>A
NM_000130.5(F5):c.5789-1G>T
NM_000130.5(F5):c.953-1G>A
NM_000133.4(F9):c.-17A>G rs1927322926
NM_000133.4(F9):c.1079T>C (p.Phe360Ser)
NM_000133.4(F9):c.1105C>T (p.Leu369Phe) rs2148367939
NM_000133.4(F9):c.1106T>C (p.Leu369Pro) rs1603267393
NM_000133.4(F9):c.1174A>G (p.Asn392Asp) rs1603267412
NM_000133.4(F9):c.1219T>A (p.Cys407Ser)
NM_000133.4(F9):c.1272C>A (p.Phe424Leu)
NM_000133.4(F9):c.1295G>C (p.Gly432Ala) rs1928130497
NM_000133.4(F9):c.236A>T (p.Glu79Val)
NM_000133.4(F9):c.251C>T (p.Thr84Ile)
NM_000133.4(F9):c.280G>A (p.Gly94Arg) rs1556437035
NM_000133.4(F9):c.302C>A (p.Pro101Gln) rs2148357901
NM_000133.4(F9):c.368T>C (p.Phe123Ser) rs1927592901
NM_000133.4(F9):c.382T>C (p.Cys128Arg)
NM_000133.4(F9):c.482A>G (p.Tyr161Cys) rs1927768329
NM_000133.4(F9):c.718T>G (p.Trp240Gly) rs1390220758
NM_000133.4(F9):c.796G>A (p.Ala266Thr)
NM_000133.4(F9):c.835G>C (p.Ala279Pro) rs137852247
NM_000133.4(F9):c.86C>T (p.Thr29Ile)
NM_000133.4(F9):c.947T>C (p.Ile316Thr) rs1603267344
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
NM_000506.5(F2):c.422+1G>A

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