ClinVar Miner

List of variants in gene TMPRSS6 reported as uncertain significance for not provided

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile) rs139105452 0.00876
NM_001374504.1(TMPRSS6):c.2105G>T (p.Arg702Leu) rs115310908 0.00447
NM_001374504.1(TMPRSS6):c.457C>T (p.Arg153Cys) rs116092750 0.00162
NM_001374504.1(TMPRSS6):c.212C>T (p.Ala71Val) rs139563689 0.00151
NM_001374504.1(TMPRSS6):c.362G>A (p.Arg121His) rs142400865 0.00117
NM_001374504.1(TMPRSS6):c.844G>A (p.Gly282Ser) rs145053404 0.00081
NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser) rs148129773 0.00058
NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu) rs139489941 0.00030
NM_001374504.1(TMPRSS6):c.361C>T (p.Arg121Cys) rs145073875 0.00028
NM_001374504.1(TMPRSS6):c.2058C>G (p.Phe686Leu) rs375189210 0.00024
NM_001374504.1(TMPRSS6):c.958C>A (p.Pro320Thr) rs138251339 0.00022
NM_001374504.1(TMPRSS6):c.1493C>T (p.Pro498Leu) rs138915369 0.00021
NM_001374504.1(TMPRSS6):c.1633C>T (p.Arg545Trp) rs140758411 0.00014
NM_001374504.1(TMPRSS6):c.1666C>T (p.His556Tyr) rs184024899 0.00009
NM_001374504.1(TMPRSS6):c.943G>A (p.Val315Met) rs188371820 0.00009
NM_001374504.1(TMPRSS6):c.1643G>T (p.Cys548Phe) rs1402839481 0.00002
NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His) rs371794539 0.00002
NM_001374504.1(TMPRSS6):c.1086G>A (p.Thr362=) rs976867694 0.00001
NM_001374504.1(TMPRSS6):c.1160C>T (p.Pro387Leu) rs758174870 0.00001
NM_001374504.1(TMPRSS6):c.2108A>C (p.Glu703Ala) rs752889957 0.00001
NM_001374504.1(TMPRSS6):c.1009G>A (p.Asp337Asn)
NM_001374504.1(TMPRSS6):c.1021G>A (p.Val341Ile)
NM_001374504.1(TMPRSS6):c.1056_1057delinsAT (p.Pro353Ser)
NM_001374504.1(TMPRSS6):c.1197-7C>A
NM_001374504.1(TMPRSS6):c.1228G>A (p.Ala410Thr)
NM_001374504.1(TMPRSS6):c.1413C>G (p.Cys471Trp)
NM_001374504.1(TMPRSS6):c.1619C>A (p.Pro540Gln) rs201244227
NM_001374504.1(TMPRSS6):c.1651G>T (p.Gly551Cys)
NM_001374504.1(TMPRSS6):c.1699C>T (p.Arg567Cys)
NM_001374504.1(TMPRSS6):c.1802G>A (p.Arg601His)
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2] rs60484081
NM_001374504.1(TMPRSS6):c.1911G>C (p.Glu637Asp)
NM_001374504.1(TMPRSS6):c.1981G>C (p.Ala661Pro)
NM_001374504.1(TMPRSS6):c.2084T>C (p.Ile695Thr)
NM_001374504.1(TMPRSS6):c.2185C>T (p.Arg729Cys)
NM_001374504.1(TMPRSS6):c.2264G>T (p.Gly755Val)
NM_001374504.1(TMPRSS6):c.2272G>C (p.Val758Leu)
NM_001374504.1(TMPRSS6):c.2366G>C (p.Arg789Pro)
NM_001374504.1(TMPRSS6):c.2372C>T (p.Thr791Ile)
NM_001374504.1(TMPRSS6):c.2383A>T (p.Ser795Cys)
NM_001374504.1(TMPRSS6):c.262C>T (p.Arg88Cys)
NM_001374504.1(TMPRSS6):c.308G>T (p.Arg103Leu) rs369875437
NM_001374504.1(TMPRSS6):c.359C>T (p.Thr120Ile)
NM_001374504.1(TMPRSS6):c.460C>T (p.Arg154Trp)
NM_001374504.1(TMPRSS6):c.598G>C (p.Val200Leu)
NM_001374504.1(TMPRSS6):c.631G>T (p.Gly211Cys) rs2146149841
NM_001374504.1(TMPRSS6):c.635G>A (p.Cys212Tyr) rs2146125729
NM_001374504.1(TMPRSS6):c.677_715del (p.Leu226_Trp238del)
NM_001374504.1(TMPRSS6):c.707G>C (p.Cys236Ser)
NM_001374504.1(TMPRSS6):c.808G>A (p.Gly270Arg)
NM_001374504.1(TMPRSS6):c.811C>T (p.Pro271Ser)
NM_001374504.1(TMPRSS6):c.837-15_837-13delinsAGG
NM_001374504.1(TMPRSS6):c.899C>A (p.Ala300Glu)
NM_001374504.1(TMPRSS6):c.952G>A (p.Val318Met) rs967908556
NM_001374504.1(TMPRSS6):c.96G>C (p.Glu32Asp)

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