ClinVar Miner

List of variants reported as likely benign for congenital vitamin K-dependent coagulation factors deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
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_000504.4(F10):c.399C>T (p.Asn133=) rs5962 0.01840
NM_019616.4(F7):c.*1649G>A rs3093259 0.01345
NM_000821.7(GGCX):c.*781A>C rs142680507 0.01337
NM_019616.4(F7):c.64+983G>A rs3093238 0.01072
NM_019616.4(F7):c.64+8C>T rs10482844 0.00989
NM_019616.4(F7):c.*533A>C rs116688254 0.00744
NM_000506.5(F2):c.1824C>T (p.Arg608=) rs3136532 0.00472
NM_000821.7(GGCX):c.*962G>C rs78372899 0.00425
NM_024006.6(VKORC1):c.129C>T (p.Cys43=) rs61742233 0.00401
NM_000821.7(GGCX):c.*1277G>A rs60864851 0.00397
NM_000504.4(F10):c.396C>T (p.Asp132=) rs111737184 0.00287
NM_000821.7(GGCX):c.189C>T (p.Ser63=) rs41290035 0.00277
NM_000821.7(GGCX):c.582C>T (p.His194=) rs76767923 0.00271
NM_019616.4(F7):c.1104C>T (p.Ala368=) rs6044 0.00216
NM_000506.5(F2):c.1298+11G>C rs144587241 0.00191
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_000821.7(GGCX):c.*4726A>C rs377381751 0.00160
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245 0.00150
NM_000821.7(GGCX):c.*463G>A rs553383801 0.00149
NM_000821.7(GGCX):c.*3067T>C rs139304933 0.00090
NM_000821.7(GGCX):c.*680G>C rs139300235 0.00090
NM_000821.7(GGCX):c.*1916C>T rs192730155 0.00069
NM_024006.6(VKORC1):c.352G>C (p.Val118Leu) rs753570105 0.00036
NM_024006.6(VKORC1):c.*243G>A rs141753512 0.00019
NM_000821.7(GGCX):c.15C>T (p.Ala5=) rs199867398 0.00018
NM_000504.4(F10):c.71-8C>T rs374210821 0.00010
NM_000821.7(GGCX):c.*165A>G rs181695165 0.00007
NM_000821.7(GGCX):c.*2822C>T rs190959810 0.00007
NM_019616.4(F7):c.*1503C>T rs551279029 0.00007
NM_000821.7(GGCX):c.*2811T>C rs118153916 0.00006
NM_000821.7(GGCX):c.1378G>A (p.Val460Ile) rs149078813 0.00006
NM_000821.7(GGCX):c.*4314T>C rs530247310 0.00001
NM_000821.7(GGCX):c.*1282G>A rs574843893
NM_019616.4(F7):c.*1240C>G rs3093256
NM_019616.4(F7):c.*82T>C rs368359845

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