ClinVar Miner

List of variants in gene TMPRSS6 studied for IRIDA syndrome

Included ClinVar conditions (2):
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Total variants: 68
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HGVS dbSNP
NM_001289000.2(TMPRSS6):c.-1-241G>A rs5756516
NM_153609.3(TMPRSS6):c.*140C>T rs886057491
NM_153609.3(TMPRSS6):c.*303T>G rs886057490
NM_153609.3(TMPRSS6):c.*35T>C rs199957731
NM_153609.3(TMPRSS6):c.*499C>T rs560949530
NM_153609.3(TMPRSS6):c.*503C>G rs117575523
NM_153609.3(TMPRSS6):c.*546T>C rs142181201
NM_153609.3(TMPRSS6):c.*576C>A rs139014458
NM_153609.3(TMPRSS6):c.*580C>G rs145137288
NM_153609.3(TMPRSS6):c.*86C>T rs116795891
NM_153609.3(TMPRSS6):c.-113T>C rs5756515
NM_153609.3(TMPRSS6):c.1000+11del rs780218999
NM_153609.3(TMPRSS6):c.1019C>T (p.Thr340Met) rs185482276
NM_153609.3(TMPRSS6):c.1065C>A (p.Tyr355Ter) rs137853121
NM_153609.3(TMPRSS6):c.1083G>A (p.Ser361=) rs2111833
NM_153609.3(TMPRSS6):c.1096T>C (p.Cys366Arg) rs886057492
NM_153609.3(TMPRSS6):c.1179T>G (p.Tyr393Ter) rs137853122
NM_153609.3(TMPRSS6):c.1224-4C>G rs529716198
NM_153609.3(TMPRSS6):c.1233C>T (p.Gly411=) rs146266448
NM_153609.3(TMPRSS6):c.1254C>T (p.Tyr418=) rs881144
NM_153609.3(TMPRSS6):c.1324G>A (p.Gly442Arg) rs137853119
NM_153609.3(TMPRSS6):c.1336C>T (p.Arg446Trp) rs117576908
NM_153609.3(TMPRSS6):c.1365G>A (p.Ser455=) rs776737568
NM_153609.3(TMPRSS6):c.1382del (p.Glu461fs)
NM_153609.3(TMPRSS6):c.1468+10C>T rs79816125
NM_153609.3(TMPRSS6):c.1468+12G>A rs78640241
NM_153609.3(TMPRSS6):c.1468+15C>T rs111807510
NM_153609.3(TMPRSS6):c.1520C>T (p.Pro507Leu) rs138915369
NM_153609.3(TMPRSS6):c.154C>T (p.Arg52Cys) rs750274321
NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn) rs137853120
NM_153609.3(TMPRSS6):c.1563C>T (p.Asp521=) rs4820268
NM_153609.3(TMPRSS6):c.1564G>A (p.Glu522Lys) rs387907018
NM_153609.3(TMPRSS6):c.1582+1G>A rs786205058
NM_153609.3(TMPRSS6):c.15C>T (p.Phe5=) rs115270691
NM_153609.3(TMPRSS6):c.1654G>A (p.Asp552Asn) rs76970337
NM_153609.3(TMPRSS6):c.1663C>T (p.Pro555Ser) rs78174698
NM_153609.3(TMPRSS6):c.170T>A (p.Phe57Tyr) rs745388319
NM_153609.3(TMPRSS6):c.1789C>T (p.Arg597Trp) rs773272073
NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter) rs137853123
NM_153609.3(TMPRSS6):c.1813del (p.Ala605fs) rs767094129
NM_153609.3(TMPRSS6):c.1869-31CCCCA[5] rs60484081
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.2085C>G (p.Phe695Leu) rs375189210
NM_153609.3(TMPRSS6):c.2132G>T (p.Arg711Leu) rs115310908
NM_153609.3(TMPRSS6):c.2139C>T (p.Gly713=) rs118004991
NM_153609.3(TMPRSS6):c.2140+1G>C rs786205059
NM_153609.3(TMPRSS6):c.2154C>T (p.Asn718=) rs143878335
NM_153609.3(TMPRSS6):c.2161C>T (p.Gln721Ter) rs775869554
NM_153609.3(TMPRSS6):c.2207T>C (p.Val736Ala) rs855791
NM_153609.3(TMPRSS6):c.2217C>T (p.Tyr739=) rs2235321
NM_153609.3(TMPRSS6):c.2346C>T (p.Ser782=) rs73886915
NM_153609.3(TMPRSS6):c.234C>G (p.Tyr78Ter) rs1569024289
NM_153609.3(TMPRSS6):c.270C>A (p.Gly90=) rs147397866
NM_153609.3(TMPRSS6):c.353C>A (p.Ala118Asp) rs267607121
NM_153609.3(TMPRSS6):c.438A>G (p.Gly146=) rs375681801
NM_153609.3(TMPRSS6):c.478G>A (p.Glu160Lys) rs752163489
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.616+9T>C rs377665035
NM_153609.3(TMPRSS6):c.659-8C>T rs375234781
NM_153609.3(TMPRSS6):c.720C>T (p.His240=) rs769301726
NM_153609.3(TMPRSS6):c.757A>G (p.Lys253Glu) rs2235324
NM_153609.3(TMPRSS6):c.863C>T (p.Ser288Leu) rs5995378
NM_153609.3(TMPRSS6):c.865G>T (p.Val289Leu) rs201148397
NM_153609.3(TMPRSS6):c.909G>A (p.Ala303=) rs370192027
NM_153609.3(TMPRSS6):c.984_985insGGAGACC (p.Pro329fs) rs1569012596
NM_153609.3(TMPRSS6):c.99G>A (p.Pro33=) rs11704654

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