ClinVar Miner

List of variants in gene TMPRSS6 reported as benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 35
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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.-1-241G>A rs5756516 0.37000
NM_001374504.1(TMPRSS6):c.1056G>A (p.Ser352=) rs2111833 0.34630
NM_001374504.1(TMPRSS6):c.-1-234T>C rs5756515 0.34174
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.-1-107C>T rs115270691 0.02489
NM_001374504.1(TMPRSS6):c.*86C>T rs116795891 0.02246
NM_001374504.1(TMPRSS6):c.2319C>T (p.Ser773=) rs73886915 0.01805
NM_001374504.1(TMPRSS6):c.579A>C (p.Leu193=) rs79013645 0.01709
NM_001374504.1(TMPRSS6):c.1441+10C>T rs79816125 0.01239
NM_001374504.1(TMPRSS6):c.836C>T (p.Ser279Leu) rs5995378 0.01207
NM_001374504.1(TMPRSS6):c.*546T>C rs142181201 0.01129
NM_001374504.1(TMPRSS6):c.*580C>G rs145137288 0.00832
NM_001374504.1(TMPRSS6):c.1800C>T (p.Asp600=) rs145814440 0.00779
NM_001374504.1(TMPRSS6):c.522C>T (p.Val174=) rs116538331 0.00594
NM_001374504.1(TMPRSS6):c.1441+12G>A rs78640241 0.00592
NM_001374504.1(TMPRSS6):c.1636C>T (p.Pro546Ser) rs78174698 0.00531
NM_001374504.1(TMPRSS6):c.390C>T (p.Ser130=) rs147700428 0.00511
NM_001374504.1(TMPRSS6):c.2074C>T (p.His692Tyr) rs200332661 0.00484
NM_001374504.1(TMPRSS6):c.2105G>T (p.Arg702Leu) rs115310908 0.00447
NM_001374504.1(TMPRSS6):c.1627G>A (p.Asp543Asn) rs76970337 0.00370
NM_001374504.1(TMPRSS6):c.2112C>T (p.Gly704=) rs118004991 0.00361
NM_001374504.1(TMPRSS6):c.537C>T (p.Ala179=) rs139207981 0.00325
NM_001374504.1(TMPRSS6):c.2127C>T (p.Asn709=) rs143878335 0.00061
NM_001374504.1(TMPRSS6):c.*503C>G rs117575523 0.00052
NM_001374504.1(TMPRSS6):c.1634G>A (p.Arg545Gln) rs150953057 0.00017
NM_001374504.1(TMPRSS6):c.1441+15C>T rs111807510
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[5] rs60484081
NM_001374504.1(TMPRSS6):c.631+46A>G rs2743824

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