ClinVar Miner

List of variants studied for Factor X deficiency

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) rs6046 0.11103
NM_019616.4(F7):c.*770G>A rs3093253 0.10963
NM_019616.4(F7):c.*1146A>G rs3093255 0.04222
NM_019616.4(F7):c.*673A>G rs3093251 0.03895
NM_000504.4(F10):c.-40C>T rs3212994 0.03388
NM_019616.4(F7):c.*1275A>G rs3093257 0.03241
NM_019616.4(F7):c.*639G>A rs3093250 0.02923
NM_019616.4(F7):c.*888G>A rs79733913 0.02191
NM_019616.4(F7):c.*1649G>A rs3093259 0.01345
NM_019616.4(F7):c.*533A>C rs116688254 0.00744
NM_000504.4(F10):c.60C>T (p.Leu20=) rs3211718 0.00507
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_000504.4(F10):c.872G>A (p.Arg291Gln) rs149212700 0.00028
NM_000504.4(F10):c.1012G>A (p.Val338Met) rs121964947 0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 0.00001
NM_000504.4(F10):c.140A>G (p.Glu47Gly) rs121964943 0.00001
NM_000504.4(F10):c.161A>G (p.Glu54Gly) rs121964944 0.00001
NM_000504.4(F10):c.80G>A (p.Arg27His) rs1263735827 0.00001
NM_000504.4(F10):c.107C>A (p.Ala36Glu) rs2036405879
NM_000504.4(F10):c.1096C>T (p.Arg366Cys) rs104894392
NM_000504.4(F10):c.1120T>C (p.Ser374Pro) rs121964941
NM_000504.4(F10):c.1325G>A (p.Gly442Asp) rs1233330150
NM_000504.4(F10):c.1387G>C (p.Asp463His) rs1476602298
NM_000504.4(F10):c.152G>A (p.Gly51Glu) rs751782758
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.214G>C (p.Glu72Gln) rs121964945
NM_000504.4(F10):c.28C>T (p.Leu10Phe) rs2142244681
NM_000504.4(F10):c.513del (p.Cys172fs) rs2138548669
NM_000504.4(F10):c.61G>A (p.Gly21Arg) rs753790195
NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer) rs387906506
NM_000504.4(F10):c.829T>A (p.Cys277Ser) rs2138554252
NM_000504.4(F10):c.84G>T (p.Arg28Ser) rs1212018525
NM_000504.4(F10):c.859A>T (p.Arg287Trp) rs121964948
NM_000504.4(F10):c.89A>G (p.Gln30Arg) rs2142252077
NM_000504.4(F10):c.964G>A (p.Asp322Asn) rs121964942
NM_001312675.2(F10):c.*138C>T rs121964940
NM_019616.4(F7):c.*1240C>G rs3093256
NM_019616.4(F7):c.*82T>C rs368359845

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