ClinVar Miner

List of variants studied for familial visceral amyloidosis by Genome-Nilou Lab

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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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.*19C>G rs187335584 0.00029
NM_000039.3(APOA1):c.9T>C (p.Ala3=) rs141383703 0.00006
NM_000039.3(APOA1):c.564C>G (p.Ala188=) rs558064576

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