ClinVar Miner

List of variants in gene APOA1 reported as pathogenic for amyloidosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg) rs28931574
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.532_533dup (p.His179fs) rs781350389
NM_000039.3(APOA1):c.593T>C (p.Leu198Ser) rs121912729
NM_000039.3(APOA1):c.595G>C (p.Ala199Pro) rs121912730

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