List of variants in gene combination TBCEL-TECTA, TECTA reported as pathogenic for auditory system disorder

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)	rs138768918	0.00029
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.5597C>T (p.Thr1866Met)	rs140236996	0.00001
NM_005422.2(TECTA):c.[5458C>T;5471G>A]
NM_005422.4(TECTA):c.1115dup (p.Ser373fs)
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs)	rs773573968
NM_005422.4(TECTA):c.1705C>T (p.Gln569Ter)	rs1946605498
NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter)
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)	rs121909059
NM_005422.4(TECTA):c.4690-1G>A
NM_005422.4(TECTA):c.4856G>C (p.Cys1619Ser)	rs121909060
NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter)	rs764153521
NM_005422.4(TECTA):c.5331G>A (p.Leu1777=)	rs1591462832
NM_005422.4(TECTA):c.5383+5_5383+8del	rs2135128814
NM_005422.4(TECTA):c.5509T>C (p.Cys1837Arg)	rs121909061
NM_005422.4(TECTA):c.5509T>G (p.Cys1837Gly)	rs121909061
NM_005422.4(TECTA):c.5609A>G (p.Tyr1870Cys)	rs121909058
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)	rs121909063
NM_005422.4(TECTA):c.5866C>T (p.Arg1956Ter)	rs1565536400
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly)	rs878853224
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His)	rs121909062
NM_005422.4(TECTA):c.6103G>T (p.Glu2035Ter)	rs267602733
NM_005422.4(TECTA):c.6162+5G>A	rs1565541888
NM_005422.4(TECTA):c.840_841insT (p.Val281fs)	rs1565519673

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