ClinVar Miner

List of variants in gene APOA1 studied for amyloidosis

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000039.3(APOA1):c.200+33T>C rs2070665 0.89533
NM_000039.3(APOA1):c.43+41T>C rs5070 0.60126
NM_000039.3(APOA1):c.732C>G (p.Pro244=) rs5080 0.00368
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_000039.3(APOA1):c.284T>A (p.Phe95Tyr) rs138407155 0.00044
NM_000039.3(APOA1):c.178T>G (p.Ser60Ala) rs199759119 0.00043
NM_000039.3(APOA1):c.315C>T (p.Gly105=) rs148950234 0.00032
NM_000039.3(APOA1):c.*19C>G rs187335584 0.00029
NM_000039.3(APOA1):c.555G>C (p.Thr185=) rs143182884 0.00023
NM_000039.3(APOA1):c.*17C>T rs370532459 0.00014
NM_000039.3(APOA1):c.200+19G>A rs377408912 0.00013
NM_000039.3(APOA1):c.726G>C (p.Leu242=) rs567268961 0.00013
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys) rs574061789 0.00010
NM_000039.3(APOA1):c.80C>A (p.Pro27His) rs121912720 0.00007
NM_000039.3(APOA1):c.9T>C (p.Ala3=) rs141383703 0.00006
NM_000039.3(APOA1):c.-11G>A rs199729971 0.00005
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg) rs757899657 0.00004
NM_000039.3(APOA1):c.28G>A (p.Val10Met) rs750125257 0.00003
NM_000039.3(APOA1):c.483G>C (p.Leu161=) rs747245248 0.00003
NM_000039.3(APOA1):c.-29G>A rs1430134542 0.00002
NM_000039.3(APOA1):c.127G>A (p.Val43Met) rs373545875 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_000039.3(APOA1):c.101G>T (p.Arg34Leu) rs28929476 0.00001
NM_000039.3(APOA1):c.116C>T (p.Ala39Val) rs746314593 0.00001
NM_000039.3(APOA1):c.126C>T (p.Tyr42=) rs1591331259 0.00001
NM_000039.3(APOA1):c.379G>A (p.Asp127Asn) rs921646982 0.00001
NM_000039.3(APOA1):c.126C>G (p.Tyr42Ter)
NM_000039.3(APOA1):c.127G>C (p.Val43Leu) rs373545875
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg) rs28931574
NM_000039.3(APOA1):c.162G>C (p.Val54=) rs193922099
NM_000039.3(APOA1):c.220T>C (p.Trp74Arg) rs121912726
NM_000039.3(APOA1):c.250_284delinsGTCAC (p.Leu84_Phe95delinsValThr) rs2134231440
NM_000039.3(APOA1):c.251T>G (p.Leu84Arg) rs121912724
NM_000039.3(APOA1):c.271G>T (p.Val91Leu) rs2134231457
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.532_533dup (p.His179fs) rs781350389
NM_000039.3(APOA1):c.564C>G (p.Ala188=) rs558064576
NM_000039.3(APOA1):c.593T>C (p.Leu198Ser) rs121912729
NM_000039.3(APOA1):c.595G>C (p.Ala199Pro) rs121912730
NM_000039.3(APOA1):c.664G>A (p.Glu222Lys) rs121912717
NM_000039.3(APOA1):c.677C>T (p.Thr226Met) rs1941530805
NM_000039.3(APOA1):c.705C>G (p.Leu235=) rs1941529555

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