ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NC_000013.11:g.113122796G>A
NM_000504.4(F10):c.-10C>G
NM_000504.4(F10):c.-40C>T rs3212994
NM_000504.4(F10):c.1032C>T (p.Pro344=)
NM_000504.4(F10):c.1043G>A (p.Trp348Ter) rs1566922655
NM_000504.4(F10):c.1115G>C (p.Arg372Pro) rs142699098
NM_000504.4(F10):c.111G>A (p.Arg37=) rs115112448
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.1347C>T (p.Tyr449=)
NM_000504.4(F10):c.1406G>A (p.Arg469Lys)
NM_000504.4(F10):c.1415C>T (p.Pro472Leu)
NM_000504.4(F10):c.142A>C (p.Met48Leu)
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.257-12C>T rs372691873
NM_000504.4(F10):c.261C>T (p.Gly87=)
NM_000504.4(F10):c.318G>C (p.Gly106=)
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.424G>A (p.Glu142Lys) rs61753266
NM_000504.4(F10):c.460G>A (p.Gly154Arg)
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.646G>A (p.Asp216Asn)
NM_000504.4(F10):c.71-8C>T rs374210821
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.872G>A (p.Arg291Gln) rs149212700
NM_000504.4(F10):c.878C>T (p.Thr293Met) rs752412971
NM_000504.4(F10):c.90G>C (p.Gln30His) rs5961
NM_000504.4(F10):c.916G>A (p.Glu306Lys)
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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