ClinVar Miner

List of variants in gene TMPRSS6 reported as pathogenic for IRIDA syndrome

Included ClinVar conditions (2):
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Total variants: 15
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HGVS dbSNP
NM_153609.3(TMPRSS6):c.1065C>A (p.Tyr355Ter) rs137853121
NM_153609.3(TMPRSS6):c.1179T>G (p.Tyr393Ter) rs137853122
NM_153609.3(TMPRSS6):c.1324G>A (p.Gly442Arg) rs137853119
NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn) rs137853120
NM_153609.3(TMPRSS6):c.1564G>A (p.Glu522Lys) rs387907018
NM_153609.3(TMPRSS6):c.1582+1G>A rs786205058
NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter) rs137853123
NM_153609.3(TMPRSS6):c.1813del (p.Ala605fs) rs767094129
NM_153609.3(TMPRSS6):c.1904_1905dup (p.Lys636fs) rs869320724
NM_153609.3(TMPRSS6):c.2055_2058dup (p.Val687fs) rs786205060
NM_153609.3(TMPRSS6):c.2140+1G>C rs786205059
NM_153609.3(TMPRSS6):c.2161C>T (p.Gln721Ter) rs775869554
NM_153609.3(TMPRSS6):c.234C>G (p.Tyr78Ter) rs1569024289
NM_153609.3(TMPRSS6):c.353C>A (p.Ala118Asp) rs267607121
TMPRSS6, 1-BP DEL, 1383A

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