ClinVar Miner

List of variants reported as uncertain significance for Familial visceral amyloidosis, Ostertag type

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000239.3(LYZ):c.*242C>A rs576522577 0.00113
NM_000239.3(LYZ):c.*608T>C rs192668989 0.00056
NM_000239.3(LYZ):c.*300C>T rs919388445 0.00041
NM_000239.3(LYZ):c.*330C>T rs886049805 0.00007
NM_000239.3(LYZ):c.*426C>T rs980457915 0.00006
NM_000239.3(LYZ):c.*565G>T rs886049808 0.00006
NM_000239.3(LYZ):c.*442T>G rs886049807 0.00004
NM_000239.3(LYZ):c.*866C>T rs959564680 0.00004
NM_000239.3(LYZ):c.175C>T (p.Arg59Ter) rs374990260 0.00004
NM_021871.4(FGA):c.765G>A (p.Pro255=) rs779582722 0.00004
NM_021871.4(FGA):c.923G>A (p.Arg308Gln) rs760992799 0.00004
NM_000239.3(LYZ):c.*331G>A rs762377090 0.00003
NM_000239.3(LYZ):c.*544C>T rs961590974 0.00003
NM_000239.3(LYZ):c.269G>A (p.Gly90Glu) rs141911537 0.00003
NM_000039.3(APOA1):c.-29G>A rs1430134542 0.00002
NM_000039.3(APOA1):c.168G>A (p.Gln56=) rs760886281 0.00002
NM_000039.3(APOA1):c.41C>T (p.Thr14Met) rs778560581 0.00002
NM_000239.3(LYZ):c.*221C>T rs886049804 0.00002
NM_000039.3(APOA1):c.116C>T (p.Ala39Val) rs746314593 0.00001
NM_000239.3(LYZ):c.*470C>T rs554855169 0.00001
NM_000239.3(LYZ):c.*891G>A rs1874912403 0.00001
NM_021871.4(FGA):c.1025G>A (p.Gly342Glu) rs774664670 0.00001
NM_021871.4(FGA):c.1615G>A (p.Glu539Lys) rs1190260696 0.00001
NM_021871.4(FGA):c.1760C>G (p.Thr587Arg) rs1309799184 0.00001
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) rs886059153 0.00001
NM_021871.4(FGA):c.822C>T (p.Ser274=) rs886059150 0.00001
NM_021871.4(FGA):c.919A>G (p.Asn307Asp) rs750564329 0.00001
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) rs532489785
NM_000039.3(APOA1):c.447G>A (p.Glu149=) rs1941542293
NM_000039.3(APOA1):c.480G>T (p.Glu160Asp) rs769548576
NM_000039.3(APOA1):c.677C>T (p.Thr226Met) rs1941530805
NM_000039.3(APOA1):c.705C>G (p.Leu235=) rs1941529555
NM_000239.3(LYZ):c.*122A>G rs1874886327
NM_000239.3(LYZ):c.*266G>C rs188313797
NM_000239.3(LYZ):c.*280_*289dup rs71094709
NM_000239.3(LYZ):c.*289_*290insTTTTTTTTTTTTT rs71094709
NM_000239.3(LYZ):c.*309G>A rs982245735
NM_000239.3(LYZ):c.*404G>T rs1874896191
NM_000239.3(LYZ):c.*440T>A rs886049806
NM_000239.3(LYZ):c.*565G>A rs886049808
NM_000239.3(LYZ):c.*771A>G rs1874909219
NM_000239.3(LYZ):c.*814C>A rs886049810
NM_000239.3(LYZ):c.209C>G (p.Thr70Ser) rs1349579951
NM_000239.3(LYZ):c.86del (p.Thr29fs) rs1565669113
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter) rs148824832
NM_021871.4(FGA):c.1120A>G (p.Thr374Ala)
NM_021871.4(FGA):c.1207G>A (p.Ala403Thr) rs1730710209
NM_021871.4(FGA):c.1621G>C (p.Val541Leu) rs1578795080
NM_021871.4(FGA):c.215G>A (p.Gly72Glu) rs1730803914
NM_021871.4(FGA):c.614A>G (p.Glu205Gly) rs886059152
NM_021871.4(FGA):c.666A>T (p.Pro222=) rs886059151

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