ClinVar Miner

List of variants reported as pathogenic for IRIDA syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg) rs137853119 0.00004
NM_001374504.1(TMPRSS6):c.1537G>A (p.Glu513Lys) rs387907018 0.00002
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs) rs1384933966 0.00001
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter) rs137853123 0.00001
NM_001374504.1(TMPRSS6):c.1877_1878dup (p.Lys627fs) rs869320724 0.00001
NM_001374504.1(TMPRSS6):c.326C>A (p.Ala109Asp) rs267607121 0.00001
NM_001374504.1(TMPRSS6):c.1152T>G (p.Tyr384Ter) rs137853122
NM_001374504.1(TMPRSS6):c.1555+1G>A rs786205058
NM_001374504.1(TMPRSS6):c.1786del (p.Ala596fs) rs767094129
NM_001374504.1(TMPRSS6):c.2028_2031dup (p.Val678fs) rs786205060
NM_001374504.1(TMPRSS6):c.2113+1G>C rs786205059

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