ClinVar Miner

List of variants reported as likely benign for IRIDA syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_153609.3(TMPRSS6):c.*546T>C rs142181201
NM_153609.3(TMPRSS6):c.*580C>G rs145137288
NM_153609.3(TMPRSS6):c.*86C>T rs116795891
NM_153609.3(TMPRSS6):c.1254C>T (p.Tyr418=) rs881144
NM_153609.3(TMPRSS6):c.1336C>T (p.Arg446Trp) rs117576908
NM_153609.3(TMPRSS6):c.1468+12G>A rs78640241
NM_153609.3(TMPRSS6):c.1468+15C>T rs111807510
NM_153609.3(TMPRSS6):c.1663C>T (p.Pro555Ser) rs78174698
NM_153609.3(TMPRSS6):c.2139C>T (p.Gly713=) rs118004991
NM_153609.3(TMPRSS6):c.2346C>T (p.Ser782=) rs73886915
NM_153609.3(TMPRSS6):c.564C>T (p.Ala188=) rs139207981
NM_153609.3(TMPRSS6):c.606A>C (p.Leu202=) rs79013645
NM_153609.3(TMPRSS6):c.863C>T (p.Ser288Leu) rs5995378
NM_153609.3(TMPRSS6):c.99G>A (p.Pro33=) rs11704654

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