ClinVar Miner

List of variants studied for Iron-refractory iron deficiency anemia

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001374504.1(TMPRSS6):c.836+23A>G rs2235326 0.68194
NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) rs855791 0.64686
NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=) rs4820268 0.59140
NM_001374504.1(TMPRSS6):c.1441+46C>T rs2072860 0.59102
NM_001374504.1(TMPRSS6):c.2190C>T (p.Tyr730=) rs2235321 0.40210
NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu) rs2235324 0.39823
NM_001374504.1(TMPRSS6):c.72G>A (p.Pro24=) rs11704654 0.17025
NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) rs881144 0.08889
NM_001374504.1(TMPRSS6):c.457C>T (p.Arg153Cys) rs116092750 0.00162
NM_001374504.1(TMPRSS6):c.844G>A (p.Gly282Ser) rs145053404 0.00081
NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu) rs139489941 0.00030
NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys) rs752163489 0.00018
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
GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1
NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)
NM_001374504.1(TMPRSS6):c.1152T>G (p.Tyr384Ter) rs137853122
NM_001374504.1(TMPRSS6):c.1396G>A (p.Asp466Asn)
NM_001374504.1(TMPRSS6):c.1547G>A (p.Cys516Tyr) rs2146057214
NM_001374504.1(TMPRSS6):c.1555+1G>A rs786205058
NM_001374504.1(TMPRSS6):c.1655C>T (p.Ser552Leu)
NM_001374504.1(TMPRSS6):c.1786del (p.Ala596fs) rs767094129
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2] rs60484081
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
NM_001374504.1(TMPRSS6):c.2028_2031dup (p.Val678fs) rs786205060
NM_001374504.1(TMPRSS6):c.2113+1G>C rs786205059
NM_001374504.1(TMPRSS6):c.2128G>A (p.Ala710Thr)
NM_001374504.1(TMPRSS6):c.262C>T (p.Arg88Cys)
NM_001374504.1(TMPRSS6):c.631+46A>G rs2743824
NM_001374504.1(TMPRSS6):c.631G>T (p.Gly211Cys) rs2146149841
NM_001374504.1(TMPRSS6):c.65C>T (p.Ala22Val)
NM_001374504.1(TMPRSS6):c.836+1G>A
NM_014729.3(TOX):c.904_905delinsGG (p.Leu302Gly)

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