ClinVar Miner

List of variants reported as benign for familial visceral amyloidosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000239.3(LYZ):c.*178C>T rs710794 0.89111
NM_021871.3(FGA):c.-58A>G rs2070011 0.65406
NM_000239.3(LYZ):c.*835C>T rs1384 0.40016
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050 0.29256
NM_000239.3(LYZ):c.*655G>T rs8612 0.10799
NM_000239.3(LYZ):c.-1C>T rs513342 0.06603
NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) rs1800973 0.04360
NM_000239.3(LYZ):c.*461G>A rs531233279 0.00770
NM_000039.3(APOA1):c.732C>G (p.Pro244=) rs5080 0.00368
NM_000239.3(LYZ):c.10C>G (p.Leu4Val) rs58131341 0.00302
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) rs2070031 0.00262
NM_021871.4(FGA):c.16A>G (p.Ile6Val) rs2070025 0.00250
NM_021871.4(FGA):c.181-14C>T rs190703077 0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=) rs112877216 0.00240
NM_000239.3(LYZ):c.*890T>C rs188271229 0.00204
NM_000239.3(LYZ):c.*418C>A rs534565279 0.00177
NM_000239.3(LYZ):c.*415G>A rs183441118 0.00159
NM_000239.3(LYZ):c.*413G>T rs193040437 0.00128
NM_000239.3(LYZ):c.*169G>A rs568058282 0.00126
NM_000239.3(LYZ):c.*191A>G rs183375295 0.00101
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) rs12718465 0.00091
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser) rs140770089 0.00058
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) rs200378626 0.00048
NM_000039.3(APOA1):c.178T>G (p.Ser60Ala) rs199759119 0.00043
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_021871.4(FGA):c.244A>C (p.Thr82Pro) rs199554805 0.00031
NM_000039.3(APOA1):c.*19C>G rs187335584 0.00029
NM_021871.4(FGA):c.*50T>G rs369606098 0.00013
NM_021871.4(FGA):c.1072G>A (p.Gly358Arg) rs201105899 0.00007
NM_000039.3(APOA1):c.9T>C (p.Ala3=) rs141383703 0.00006
NM_021871.4(FGA):c.1838A>G (p.His613Arg) rs201686865 0.00004
NM_000039.3(APOA1):c.28G>A (p.Val10Met) rs750125257 0.00003
NM_021871.4(FGA):c.1718G>A (p.Arg573His) rs78506343 0.00003
NM_000239.3(LYZ):c.151A>T (p.Lys51Ter) rs367682582 0.00002
NM_021871.4(FGA):c.1918C>G (p.Pro640Ala) rs199571440 0.00002
NM_021871.4(FGA):c.450G>A (p.Gln150=) rs368446857 0.00002
NM_021871.4(FGA):c.904C>G (p.Pro302Ala) rs200203992 0.00002
NM_021871.4(FGA):c.1912G>A (p.Gly638Arg) rs771429165 0.00001
NM_000239.3(LYZ):c.*266G>A rs188313797
NM_000239.3(LYZ):c.*521G>A rs567541896
NM_000239.3(LYZ):c.415G>C (p.Val139Leu) rs367623154
NM_021871.4(FGA):c.*133G>A rs182736373

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