ClinVar Miner

List of variants in gene TMIE reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_147196.3(TMIE):c.40G>A (p.Gly14Ser) rs397517869 0.00063
NM_147196.3(TMIE):c.219G>A (p.Thr73=) rs202208051 0.00053
NM_147196.3(TMIE):c.102G>A (p.Thr34=) rs201107982 0.00034
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_147196.3(TMIE):c.174C>T (p.His58=) rs373379198 0.00007
NM_147196.3(TMIE):c.101C>T (p.Thr34Met) rs763490939 0.00006
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu) rs370899710 0.00005
NM_147196.3(TMIE):c.34G>T (p.Val12Leu) rs397517867 0.00003
NM_147196.3(TMIE):c.211+5G>A rs375470385 0.00002
NM_147196.3(TMIE):c.218C>T (p.Thr73Met) rs770957465 0.00002
NM_147196.3(TMIE):c.361+11C>T rs368701214 0.00002
NM_147196.3(TMIE):c.419A>G (p.Lys140Arg) rs201397940 0.00001
NM_147196.2(TMIE):c.(?_-216)_*(1276_?)dup
NM_147196.3(TMIE):c.123G>A (p.Pro41=) rs765221463
NM_147196.3(TMIE):c.211+3G>C rs397517865
NM_147196.3(TMIE):c.247C>T (p.Pro83Ser) rs876658019
NM_147196.3(TMIE):c.251G>T (p.Arg84Leu) rs397517866
NM_147196.3(TMIE):c.367AAG[10] (p.Lys131dup) rs10578999
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del) rs10578999
NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del) rs10578999
NM_147196.3(TMIE):c.367_393= (p.Lys123_Lys131=) rs10578999
NM_147196.3(TMIE):c.388_391delinsG (p.Lys130_Lys131delinsGlu) rs397517868
NM_147196.3(TMIE):c.390G>A (p.Lys130=) rs1472645388

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