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Gene: TECTA & Disease: Rare Genetic Deafness, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
236058	TECTA	c.5597C>T	p.Thr1866Met (p.T1866M)	NM_005422.4 M	SNV	P	4 +	10
517590	TECTA	c.2719C>T	p.Arg907Ter (p.R907X)	NM_005422.4 M	SNV	LP	1 +	8
505476	TECTA	c.2139C>A	p.Cys713Ter (p.C713X)	NM_005422.4 M	SNV	P	1 +	6
228295	TECTA	c.6163-2A>T	--	NM_005422.4 M	SNV	LP	1 +	5
498538	TECTA	c.4085G>A	p.Trp1362Ter (p.W1362X)	NM_005422.4 M	SNV	P	5 +	5
228404	TECTA	c.5977C>T	p.Arg1993Ter (p.R1993X)	NM_005422.4 M	SNV	P	1 +	2
667334	TECTA	c.5662A>G	p.Arg1888Gly (p.R1888G)	NM_005422.4 M	SNV	LP	1 +	1
667390	TECTA	c.5235del	p.Ile1746fs (p.I1746fs)	NM_005422.4 M	Del	LP	1 +	1
667414	TECTA	c.5692T>C	p.Cys1898Arg (p.C1898R)	NM_005422.4 M	SNV	LP	1 +	1
505042	TECTA	c.5754_5755del	p.Val1918_Ile1919insTer	NM_005422.4 M	Del	P	1 +	1
165373	TECTA	c.6155G>A	p.Cys2052Tyr (p.C2052Y)	NM_005422.4 M	SNV	LP	1 +	1

11 Results, 20 per Page

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