ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported as pathogenic by Invitae

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_005422.4(TECTA):c.6162+1G>A rs1045921265 0.00003
NM_005422.4(TECTA):c.4064_4065del (p.Gln1355fs) rs749360244 0.00001
NM_005422.4(TECTA):c.4665del (p.Ile1556fs) rs764570434 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.596del (p.Leu199fs) rs1029723713 0.00001
NM_005422.4(TECTA):c.1048C>T (p.Arg350Ter)
NM_005422.4(TECTA):c.1606del (p.Glu536fs)
NM_005422.4(TECTA):c.2139C>A (p.Cys713Ter) rs768295360
NM_005422.4(TECTA):c.2264dup (p.Asn755fs) rs1159210445
NM_005422.4(TECTA):c.3520C>T (p.Arg1174Ter)
NM_005422.4(TECTA):c.3526_3539del (p.Tyr1176fs)
NM_005422.4(TECTA):c.354del (p.Glu118fs)
NM_005422.4(TECTA):c.3950_3951del (p.Lys1317fs)
NM_005422.4(TECTA):c.4116C>A (p.Cys1372Ter)
NM_005422.4(TECTA):c.5373del (p.Tyr1792fs)
NM_005422.4(TECTA):c.5383+5_5383+8del rs2135128814
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005422.4(TECTA):c.5683G>T (p.Glu1895Ter)
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly) rs878853224
NM_005422.4(TECTA):c.6057del (p.Cys2020fs) rs2134215591
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005422.4(TECTA):c.6150C>A (p.Tyr2050Ter)

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