ClinVar Miner

List of variants reported as uncertain significance for Factor V and factor VIII, combined deficiency of, type 1

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_005570.4(LMAN1):c.*2359A>G rs41522247 0.00504
NM_005570.4(LMAN1):c.*57G>A rs41355245 0.00366
NM_005570.4(LMAN1):c.*753T>C rs182108487 0.00219
NM_005570.4(LMAN1):c.*416C>T rs140370262 0.00130
NM_005570.4(LMAN1):c.*2637T>C rs769626957 0.00068
NM_005570.4(LMAN1):c.*652T>C rs185861958 0.00063
NM_005570.4(LMAN1):c.1221-4T>C rs200829791 0.00061
NM_005570.4(LMAN1):c.*2021A>C rs140144803 0.00059
NM_005570.4(LMAN1):c.1319A>G (p.Lys440Arg) rs147071939 0.00051
NM_005570.4(LMAN1):c.1392G>A (p.Pro464=) rs149932943 0.00050
NM_005570.4(LMAN1):c.*48G>A rs148071519 0.00045
NM_005570.4(LMAN1):c.*2044A>G rs191555835 0.00038
NM_005570.4(LMAN1):c.1411C>T (p.Pro471Ser) rs140260039 0.00035
NM_005570.4(LMAN1):c.478-15T>C rs183354795 0.00034
NM_005570.4(LMAN1):c.*185A>T rs764761931 0.00031
NM_005570.4(LMAN1):c.1050G>T (p.Arg350=) rs185875271 0.00027
NM_005570.4(LMAN1):c.*1616A>G rs543483287 0.00026
NM_005570.4(LMAN1):c.*210G>A rs182963083 0.00025
NM_005570.4(LMAN1):c.*424T>G rs886054037 0.00025
NM_005570.4(LMAN1):c.*1298A>G rs762134361 0.00019
NM_005570.4(LMAN1):c.*939C>T rs149781610 0.00019
NM_005570.4(LMAN1):c.846G>A (p.Ser282=) rs377676111 0.00018
NM_005570.4(LMAN1):c.169C>G (p.Leu57Val) rs777224819 0.00013
NM_005570.4(LMAN1):c.*571T>C rs541441878 0.00012
NM_005570.4(LMAN1):c.*492T>C rs755899010 0.00011
NM_005570.4(LMAN1):c.*1631A>G rs767155286 0.00010
NM_005570.4(LMAN1):c.27C>G (p.Leu9=) rs747955217 0.00010
NM_005570.4(LMAN1):c.*2099C>T rs765984474 0.00009
NM_005570.4(LMAN1):c.*319A>G rs1005400095 0.00008
NM_005570.4(LMAN1):c.638C>T (p.Thr213Ile) rs144038994 0.00007
NM_005570.4(LMAN1):c.*1988C>T rs886054033 0.00006
NM_005570.4(LMAN1):c.1412C>T (p.Pro471Leu) rs770116653 0.00005
NM_005570.4(LMAN1):c.539+3A>G rs201868497 0.00005
NM_005570.4(LMAN1):c.*1168C>T rs770166340 0.00004
NM_005570.4(LMAN1):c.*1565C>T rs140930139 0.00004
NM_005570.4(LMAN1):c.*2541T>C rs907209594 0.00004
NM_005570.4(LMAN1):c.*1332C>G rs779423308 0.00003
NM_005570.4(LMAN1):c.*2650G>A rs886054030 0.00003
NM_005570.4(LMAN1):c.-5C>T rs765835101 0.00003
NM_005570.4(LMAN1):c.512A>G (p.Asn171Ser) rs778293644 0.00003
NM_005570.4(LMAN1):c.*1970T>G rs886054034 0.00002
NM_005570.4(LMAN1):c.1434G>A (p.Thr478=) rs748522800 0.00002
NM_139279.6(MCFD2):c.*1289T>C rs527427772 0.00002
NM_005570.4(LMAN1):c.*1271A>G rs186096990 0.00001
NM_005570.4(LMAN1):c.*1300C>T rs1264494097 0.00001
NM_005570.4(LMAN1):c.*1862A>G rs893452939 0.00001
NM_005570.4(LMAN1):c.*2670G>C rs1263821261 0.00001
NM_005570.4(LMAN1):c.*2893G>A rs143943495 0.00001
NM_005570.4(LMAN1):c.*480A>G rs1169482714 0.00001
NM_005570.4(LMAN1):c.*763T>A rs915077070 0.00001
NM_005570.4(LMAN1):c.*794A>G rs534664183 0.00001
NM_005570.4(LMAN1):c.106G>C (p.Asp36His) rs749081325 0.00001
NM_005570.4(LMAN1):c.1310T>C (p.Ile437Thr) rs199557121 0.00001
NM_005570.4(LMAN1):c.463G>C (p.Asp155His) rs761881594 0.00001
NM_005570.4(LMAN1):c.597T>C (p.Tyr199=) rs984139447 0.00001
NM_005570.4(LMAN1):c.775G>A (p.Val259Ile) rs948402457 0.00001
NM_001171506.2(MCFD2):c.-184_-183del rs886056120
NM_001171506.2(MCFD2):c.-185_-183del rs886056121
NM_001171506.2(MCFD2):c.-189_-186del rs886056123
NM_001171506.2(MCFD2):c.-189del rs886056124
NM_005570.4(LMAN1):c.*1164A>G rs2070737289
NM_005570.4(LMAN1):c.*1305A>G rs886054036
NM_005570.4(LMAN1):c.*1390T>C rs566011013
NM_005570.4(LMAN1):c.*1390T>G rs566011013
NM_005570.4(LMAN1):c.*1452_*1455del rs886054035
NM_005570.4(LMAN1):c.*1556C>G rs2070734881
NM_005570.4(LMAN1):c.*21T>G rs2298713
NM_005570.4(LMAN1):c.*2259A>T rs886054032
NM_005570.4(LMAN1):c.*2602G>T rs886054031
NM_005570.4(LMAN1):c.*2923C>T rs561819154
NM_005570.4(LMAN1):c.1391C>G (p.Pro464Arg) rs750667779
NM_005570.4(LMAN1):c.1527C>A (p.Phe509Leu) rs1010921896
NM_005570.4(LMAN1):c.477+10T>C rs547944681
NM_005570.4(LMAN1):c.540T>G (p.Asn180Lys) rs886054038
NM_005570.4(LMAN1):c.663A>G (p.Thr221=) rs368261071
NM_139279.6(MCFD2):c.*2780_*2781del rs886056109
NM_139279.6(MCFD2):c.*3072_*3073insGG rs559484016
NM_139279.6(MCFD2):c.-90del rs886056122

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