ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP
NM_000504.4(F10):c.-40C>T rs3212994
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000504.4(F10):c.60C>T (p.Leu20=) rs3211718
NM_000504.4(F10):c.872G>A (p.Arg291Gln) rs149212700
NM_019616.4(F7):c.*1146A>G rs3093255
NM_019616.4(F7):c.*1240C>G rs3093256
NM_019616.4(F7):c.*1275A>G rs3093257
NM_019616.4(F7):c.*1649G>A rs3093259
NM_019616.4(F7):c.*533A>C rs116688254
NM_019616.4(F7):c.*639G>A rs3093250
NM_019616.4(F7):c.*673A>G rs3093251
NM_019616.4(F7):c.*770G>A rs3093253
NM_019616.4(F7):c.*82T>C rs368359845
NM_019616.4(F7):c.*888G>A rs79733913
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) rs6046

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