ClinVar Miner

List of variants reported as uncertain significance for Hereditary factor VIII deficiency disease by Illumina Laboratory Services, Illumina

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.*426G>A rs782273756 0.00052
NM_000132.4(F8):c.*78C>T rs782435894 0.00047
NM_000132.4(F8):c.*1166A>G rs984572217 0.00018
NM_000132.4(F8):c.2887G>A (p.Asp963Asn) rs199660138 0.00017
NM_000132.4(F8):c.*1731T>C rs782700848 0.00010
NM_000132.4(F8):c.2696G>A (p.Ser899Asn) rs145089334 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro) rs1800294 0.00007
NM_000132.4(F8):c.2299C>T (p.His767Tyr) rs782115513 0.00005
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala) rs139348729 0.00005
NM_000132.4(F8):c.*460G>A rs782195878 0.00004
NM_000132.4(F8):c.3534G>C (p.Lys1178Asn) rs1279491966 0.00004
NM_000132.4(F8):c.*1175G>C rs950453657 0.00003
NM_000132.4(F8):c.*288C>A rs1044626956 0.00003
NM_000132.4(F8):c.*1362A>T rs1032816312 0.00002
NM_000132.4(F8):c.*915G>A rs1259930797 0.00002
NM_000132.4(F8):c.*975A>G rs892955433 0.00001
NM_000132.4(F8):c.-157A>G rs1057515826 0.00001
NM_000132.4(F8):c.1173C>T (p.Arg391=) rs1411642179 0.00001
NM_000132.4(F8):c.1587A>G (p.Lys529=) rs1369480074 0.00001
NM_000132.4(F8):c.4411A>G (p.Met1471Val) rs782058716 0.00001
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu) rs782235155 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000132.4(F8):c.978A>G (p.Leu326=) rs782374508 0.00001
NM_000132.4(F8):c.*1017C>A rs1603430909
NM_000132.4(F8):c.*176G>A rs2072481964
NM_000132.4(F8):c.*862A>G rs1057515824
NM_000132.4(F8):c.*908T>G rs2072478087
NM_000132.4(F8):c.1830A>G (p.Ile610Met) rs931279960
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.793A>G (p.Ile265Val) rs2073445187

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