ClinVar Miner

List of variants reported as likely benign for amyloidosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000371.3(TTR):c.*261C>T rs62093482 0.01852
NM_021871.4(FGA):c.1542T>C (p.Pro514=) rs4766 0.00426
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr) rs138407155 0.00044
NM_021871.4(FGA):c.616C>G (p.Gln206Glu) rs560732073 0.00019
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000039.3(APOA1):c.*17C>T rs370532459 0.00014
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys) rs574061789 0.00010
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_198252.3(GSN):c.126C>T (p.Asp42=) rs200027070 0.00007
NM_000371.4(TTR):c.355G>A (p.Asp119Asn) rs76410435 0.00006
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037 0.00006
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala) rs370873387 0.00006
NM_198252.3(GSN):c.427G>A (p.Gly143Arg) rs750132751 0.00006
NM_000039.3(APOA1):c.-11G>A rs199729971 0.00005
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg) rs757899657 0.00004
NM_000239.3(LYZ):c.156G>A (p.Trp52Ter) rs764263034 0.00004
NM_198252.3(GSN):c.2045C>T (p.Thr682Met) rs142854368 0.00004
NM_000239.3(LYZ):c.272C>G (p.Ala91Gly) rs776898103 0.00003
NM_000371.4(TTR):c.267C>T (p.Tyr89=) rs757950308 0.00003
NM_198252.3(GSN):c.723G>A (p.Ala241=) rs377624593 0.00002
NM_198252.3(GSN):c.123C>T (p.Gly41=) rs774617795 0.00001
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr) rs777955781 0.00001
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln) rs770023727 0.00001
NM_000039.3(APOA1):c.127G>C (p.Val43Leu) rs373545875
NM_000239.3(LYZ):c.*735del rs148802204
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln) rs528604896

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