ClinVar Miner

List of variants studied for Factor X deficiency by Illumina Clinical Services Laboratory,Illumina

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Total variants: 29
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HGVS dbSNP
NM_000131.4(F7):c.*1146A>G rs3093255
NM_000131.4(F7):c.*1240C>G rs3093256
NM_000131.4(F7):c.*1275A>G rs3093257
NM_000131.4(F7):c.*1649G>A rs3093259
NM_000131.4(F7):c.*533A>C rs116688254
NM_000131.4(F7):c.*639G>A rs3093250
NM_000131.4(F7):c.*673A>G rs3093251
NM_000131.4(F7):c.*770G>A rs3093253
NM_000131.4(F7):c.*82T>C rs368359845
NM_000131.4(F7):c.*888G>A rs79733913
NM_000131.4(F7):c.1238G>A (p.Arg413Gln) rs6046
NM_000504.4(F10):c.-40C>T rs3212994
NM_000504.4(F10):c.1043G>A (p.Trp348Ter) rs1566922655
NM_000504.4(F10):c.1215C>T (p.Ala405=) rs770904651
NM_000504.4(F10):c.1226C>T (p.Thr409Ile) rs775241064
NM_000504.4(F10):c.257-12C>T rs372691873
NM_000504.4(F10):c.348C>T (p.Phe116=) rs747030511
NM_000504.4(F10):c.396C>T (p.Asp132=) rs111737184
NM_000504.4(F10):c.399C>T (p.Asn133=) rs5962
NM_000504.4(F10):c.574G>A (p.Gly192Arg) rs3211783
NM_000504.4(F10):c.57G>A (p.Leu19=) rs370154986
NM_000504.4(F10):c.584C>G (p.Pro195Arg) rs886050002
NM_000504.4(F10):c.60C>T (p.Leu20=) rs3211718
NM_000504.4(F10):c.633C>G (p.Thr211=) rs140852978
NM_000504.4(F10):c.747+11G>A rs376728587
NM_000504.4(F10):c.792C>T (p.Thr264=) rs5960
NM_000504.4(F10):c.7C>T (p.Arg3Cys) rs149972574
NM_000504.4(F10):c.878C>T (p.Thr293Met) rs752412971
NM_000504.4(F10):c.90G>C (p.Gln30His) rs5961

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