ClinVar Miner

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

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_198252.3(GSN):c.*185G>A rs757682798 0.00065
NM_198252.3(GSN):c.*98T>A rs903037306 0.00021
NM_198252.3(GSN):c.*126T>C rs886063411 0.00011
NM_198252.3(GSN):c.*205G>A rs779431879 0.00010
NM_198252.3(GSN):c.7G>T (p.Val3Leu) rs138068754 0.00005
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) rs372681751 0.00004
NM_198252.3(GSN):c.-9-2026C>T rs1048849212 0.00003
NM_198252.3(GSN):c.1553G>A (p.Arg518His) rs769400986 0.00003
NM_198252.3(GSN):c.546T>G (p.Asn182Lys) rs752698745 0.00003
NM_198252.3(GSN):c.228G>A (p.Ala76=) rs761824852 0.00002
NM_198252.3(GSN):c.886+12A>C rs201952723 0.00002
NM_198252.3(GSN):c.*194G>A rs886063412 0.00001
NM_198252.3(GSN):c.-9-2021G>A rs886063405 0.00001
NM_198252.3(GSN):c.-9-2137C>T rs886063404 0.00001
NM_198252.3(GSN):c.1942A>G (p.Met648Val) rs886063406 0.00001
NM_198252.3(GSN):c.440T>C (p.Val147Ala) rs2061027102 0.00001
NM_198252.3(GSN):c.509G>C (p.Gly170Ala) rs2061035565 0.00001
NM_198252.3(GSN):c.*28G>A rs376801564
NM_198252.3(GSN):c.-4C>G rs2059919681
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg) rs780840732
NM_198252.3(GSN):c.1657C>G (p.Leu553Val) rs2063344146
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys) rs886063407
NM_198252.3(GSN):c.914A>G (p.Lys305Arg) rs2061970047
NM_198252.3(GSN):c.998G>T (p.Gly333Val) rs1014328091

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