ClinVar Miner

List of variants in gene combination TBCEL, TBCEL-TECTA studied for not specified

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001363644.2(TBCEL):c.435G>T (p.Met145Ile) rs140003630 0.00066
NM_001363644.2(TBCEL):c.292A>C (p.Asn98His) rs560478213 0.00011
NM_001363644.2(TBCEL):c.1130A>G (p.Gln377Arg) rs375282149 0.00007
NM_001363644.2(TBCEL):c.274G>A (p.Val92Ile) rs376267533 0.00005
NM_001363644.2(TBCEL):c.110C>A (p.Thr37Lys) rs1461438871 0.00002
NM_001363644.2(TBCEL):c.733A>G (p.Ile245Val) rs372851892 0.00002
NM_001363644.2(TBCEL):c.143A>G (p.Asn48Ser) rs776567707 0.00001
NM_001363644.2(TBCEL):c.511A>G (p.Ile171Val) rs1241335057 0.00001
NM_001363644.2(TBCEL):c.578G>A (p.Arg193Gln) rs1301403335 0.00001
NM_001363644.2(TBCEL):c.608A>T (p.Asp203Val) rs745684372 0.00001
NM_001363644.2(TBCEL):c.689G>A (p.Arg230Gln) rs1457306216 0.00001
NM_001363644.2(TBCEL):c.10C>A (p.Pro4Thr)
NM_001363644.2(TBCEL):c.1135C>T (p.Pro379Ser) rs2496862107
NM_001363644.2(TBCEL):c.122C>G (p.Ser41Cys) rs1028764515
NM_001363644.2(TBCEL):c.122C>T (p.Ser41Phe) rs1028764515
NM_001363644.2(TBCEL):c.220G>A (p.Ala74Thr)
NM_001363644.2(TBCEL):c.379G>A (p.Gly127Arg)
NM_001363644.2(TBCEL):c.382G>A (p.Val128Ile) rs767042196
NM_001363644.2(TBCEL):c.503G>C (p.Cys168Ser) rs2496772228
NM_001363644.2(TBCEL):c.595T>C (p.Phe199Leu) rs2496772506
NM_001363644.2(TBCEL):c.616G>A (p.Val206Ile)
NM_001363644.2(TBCEL):c.647A>C (p.Glu216Ala)
NM_001363644.2(TBCEL):c.670A>G (p.Arg224Gly)
NM_001363644.2(TBCEL):c.757A>C (p.Lys253Gln) rs2496782053
NM_001363644.2(TBCEL):c.941A>G (p.Glu314Gly)

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