ClinVar Miner

List of variants studied for amyloidosis by Genome-Nilou Lab

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000039.3(APOA1):c.200+33T>C rs2070665 0.89533
NM_198252.3(GSN):c.1417-22T>C rs306769 0.85170
NM_198252.3(GSN):c.1763-34G>A rs306771 0.80923
NM_139017.7(IL31RA):c.129C>T (p.Pro43=) rs1009639 0.69690
NM_139017.7(IL31RA):c.606+29A>T rs10940491 0.64076
NM_000039.3(APOA1):c.43+41T>C rs5070 0.60126
NM_139017.7(IL31RA):c.1449T>G (p.Gly483=) rs9632389 0.13291
NM_198252.3(GSN):c.1260C>T (p.Gly420=) rs2304393 0.05790
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
NM_139017.7(IL31RA):c.1819-26T>G rs16884641

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