ClinVar Miner

List of variants studied for Iron-refractory iron deficiency anemia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 9
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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.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs) rs1384933966 0.00001
GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1
NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
NM_001374504.1(TMPRSS6):c.631G>T (p.Gly211Cys) rs2146149841
NM_001374504.1(TMPRSS6):c.836+1G>A
NM_014729.3(TOX):c.904_905delinsGG (p.Leu302Gly)

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