ClinVar Miner

List of variants in gene F8 reported by NIHR Bioresource Rare Diseases, University of Cambridge

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.3980C>T (p.Thr1327Met) rs200520711 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.1700T>C (p.Ile567Thr) rs782193428 0.00003
NM_000132.4(F8):c.6901-725T>C rs1393847621 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000132.4(F8):c.1093T>C (p.Tyr365His) rs782216863 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.5303G>A (p.Arg1768His) rs151202877 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6932C>A (p.Pro2311His) rs1047644991 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000132.4(F8):c.1020A>C (p.Glu340Asp) rs1603435286
NM_000132.4(F8):c.1034T>C (p.Val345Ala) rs1189348665
NM_000132.4(F8):c.1073dup (p.Asn358fs) rs1603435281
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1364T>G (p.Phe455Cys) rs1603435217
NM_000132.4(F8):c.143G>A (p.Arg48Lys) rs1261929809
NM_000132.4(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.4(F8):c.1621A>T (p.Thr541Ser) rs139526001
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1654T>C (p.Tyr552His) rs1603434863
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1894del (p.Ile632fs) rs1603434698
NM_000132.4(F8):c.1898T>G (p.Met633Arg) rs1603434697
NM_000132.4(F8):c.2043G>C (p.Met681Ile) rs1603434460
NM_000132.4(F8):c.2099C>T (p.Ser700Leu) rs1359096117
NM_000132.4(F8):c.2114-6760_2257del
NM_000132.4(F8):c.3247_3248del (p.Met1083fs) rs1603433803
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.4313dup (p.Ser1439fs) rs1603433756
NM_000132.4(F8):c.460A>C (p.Thr154Pro) rs1603436436
NM_000132.4(F8):c.5164G>A (p.Val1722Met) rs1603433719
NM_000132.4(F8):c.5217C>T (p.Asn1739=) rs1603433715
NM_000132.4(F8):c.5219+2T>C rs1603433713
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.4(F8):c.5587-98G>A rs1603432993
NM_000132.4(F8):c.558C>A (p.Asp186Glu) rs1603436426
NM_000132.4(F8):c.5896A>C (p.Met1966Leu) rs1603432970
NM_000132.4(F8):c.5918A>T (p.His1973Leu) rs1273080258
NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe) rs2073022685
NM_000132.4(F8):c.6082G>A (p.Gly2028Arg) rs1603432908
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000132.4(F8):c.6434T>G (p.Phe2145Cys) rs1603431562
NM_000132.4(F8):c.6437T>C (p.Phe2146Ser) rs1603431561
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6592G>A (p.Gly2198Arg) rs1603431512
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe) rs1603431508
NM_000132.4(F8):c.6686T>C (p.Leu2229Pro) rs1603431506
NM_000132.4(F8):c.671-50_787+50del rs1603436123
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.6751G>A (p.Val2251Met) rs1603431480
NM_000132.4(F8):c.6776T>A (p.Val2259Asp) rs1603431479
NM_000132.4(F8):c.6920A>C (p.Asp2307Ala) rs1603430929
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.4(F8):c.788-14T>G rs1603435417
NM_000132.4(F8):c.926C>T (p.Pro309Leu) rs1603435401
NM_000132.4(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
Single allele

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