ClinVar Miner

List of variants in gene F8 reported as likely pathogenic for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000132.3(F8):c.1034T>C (p.Val345Ala)
NM_000132.3(F8):c.1073dup (p.Asn358fs)
NM_000132.3(F8):c.1093T>C (p.Tyr365His)
NM_000132.3(F8):c.143G>A (p.Arg48Lys)
NM_000132.3(F8):c.1654T>C (p.Tyr552His)
NM_000132.3(F8):c.1700T>C (p.Ile567Thr)
NM_000132.3(F8):c.1748A>G (p.Asn583Ser) rs782657516
NM_000132.3(F8):c.1894del (p.Ile632fs)
NM_000132.3(F8):c.1898T>G (p.Met633Arg)
NM_000132.3(F8):c.2099C>T (p.Ser700Leu)
NM_000132.3(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000132.3(F8):c.3245_3246AT[1] (p.Met1083fs)
NM_000132.3(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.3(F8):c.4313dup (p.Ser1439fs)
NM_000132.3(F8):c.460A>C (p.Thr154Pro)
NM_000132.3(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
NM_000132.3(F8):c.5217C>T (p.Asn1739=)
NM_000132.3(F8):c.5219+2T>C
NM_000132.3(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.3(F8):c.558C>A (p.Asp186Glu)
NM_000132.3(F8):c.5896A>C (p.Met1966Leu)
NM_000132.3(F8):c.6437T>C (p.Phe2146Ser)
NM_000132.3(F8):c.6533G>A (p.Arg2178His) rs137852465
NM_000132.3(F8):c.6592G>A (p.Gly2198Arg)
NM_000132.3(F8):c.671-50_787+50del
NM_000132.3(F8):c.6776T>A (p.Val2259Asp)
NM_000132.3(F8):c.6920A>C (p.Asp2307Ala)
NM_000132.3(F8):c.733C>T (p.Arg245Trp)
NM_000132.3(F8):c.984T>G
Single allele

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