ClinVar Miner

List of variants studied for Factor X deficiency

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Total variants: 39
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HGVS dbSNP
D282N
E14K
E32Q
E7G
F10, G-A, -20
F10, PRO343SER
F10, SER334PRO
F10, THR318MET
F10, VAL298MET
Factor X Ketchikan
NM_000504.4(F10):c.-40C>T rs3212994
NM_000504.4(F10):c.107C>A (p.Ala36Glu)
NM_000504.4(F10):c.1096C>T (p.Arg366Cys) rs104894392
NM_000504.4(F10):c.1325G>A (p.Gly442Asp)
NM_000504.4(F10):c.1387G>C (p.Asp463His)
NM_000504.4(F10):c.152G>A (p.Gly51Glu)
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.28C>T (p.Leu10Phe)
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000504.4(F10):c.513del (p.Cys172fs)
NM_000504.4(F10):c.60C>T (p.Leu20=) rs3211718
NM_000504.4(F10):c.80G>A (p.Arg27His)
NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer) rs387906506
NM_000504.4(F10):c.829T>A (p.Cys277Ser)
NM_000504.4(F10):c.84G>T (p.Arg28Ser)
NM_000504.4(F10):c.859A>T (p.Arg287Trp) rs121964948
NM_000504.4(F10):c.872G>A (p.Arg291Gln) rs149212700
NM_000504.4(F10):c.89A>G (p.Gln30Arg)
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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