ClinVar Miner

List of variants reported as uncertain significance for Finnish type amyloidosis by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_001127666.2(GSN):c.*126T>C rs886063411
NM_001127666.2(GSN):c.*185G>A rs757682798
NM_001127666.2(GSN):c.*194G>A rs886063412
NM_001127666.2(GSN):c.*205G>A rs779431879
NM_001127666.2(GSN):c.*28G>A
NM_001127666.2(GSN):c.*98T>A
NM_001127666.2(GSN):c.-47-114G>A rs886063405
NM_001127666.2(GSN):c.-47-119C>T
NM_001127666.2(GSN):c.-47-159_-47-153del rs1564468965
NM_001127666.2(GSN):c.-47-230C>T rs886063404
NM_001127666.2(GSN):c.1031G>T (p.Gly344Val)
NM_001127666.2(GSN):c.1580A>G (p.Gln527Arg)
NM_001127666.2(GSN):c.1586G>A (p.Arg529His) rs769400986
NM_001127666.2(GSN):c.1690C>G (p.Leu564Val)
NM_001127666.2(GSN):c.1975A>G (p.Met659Val) rs886063406
NM_001127666.2(GSN):c.2035G>A (p.Glu679Lys) rs886063407
NM_001127666.2(GSN):c.261G>A (p.Ala87=)
NM_001127666.2(GSN):c.30C>G (p.Asn10Lys)
NM_001127666.2(GSN):c.40G>T (p.Val14Leu)
NM_001127666.2(GSN):c.473T>C (p.Val158Ala)
NM_001127666.2(GSN):c.542G>C (p.Gly181Ala)
NM_001127666.2(GSN):c.579T>G (p.Asn193Lys) rs752698745
NM_001127666.2(GSN):c.919+12A>C
NM_001127666.2(GSN):c.947A>G (p.Lys316Arg)

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