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Gene: TRRAP & Disease: DFNA75, 33 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1679670	TRRAP	c.9500G>A	p.Arg3167Gln (p.R3167Q)	NM_001375524.1 M	SNV	VUS	2 +	1
975628	TRRAP	c.9952A>G	p.Met3318Val (p.M3318V)	NM_001375524.1 M	SNV	LP	2 +	1
812648	TRRAP	c.511C>T	p.Arg171Cys (p.R171C)	NM_001375524.1 M	SNV	P	1 +	1
1679670	TRRAP	c.9512G>A	p.Arg3171Gln (p.R3171Q)	NM_001244580.2	SNV	VUS	2 +	1
1679670	TRRAP	c.9425G>A	p.Arg3142Gln (p.R3142Q)	NM_003496.4	SNV	VUS	2 +	1
975628	TRRAP	c.9910A>G	p.Met3304Val (p.M3304V)	NM_001244580.2	SNV	LP	2 +	1
975628	TRRAP	c.9823A>G	p.Met3275Val (p.M3275V)	NM_003496.4	SNV	LP	2 +	1
812648	TRRAP	c.511C>T	p.Arg171Cys (p.R171C)	NM_001244580.2	SNV	P	1 +	1
812648	TRRAP	c.511C>T	p.Arg171Cys (p.R171C)	NM_003496.4	SNV	P	1 +	1
1269922	TRRAP	c.2200-46C>T	--	NM_001375524.1 M	SNV	B	2 +	0
2441838	TRRAP	c.5974A>C	p.Met1992Leu (p.M1992L)	NM_001375524.1 M	SNV	VUS	2 +	0
2442046	TRRAP	c.8750T>C	p.Met2917Thr (p.M2917T)	NM_001375524.1 M	SNV	VUS	2 +	0
2442113	TRRAP	c.4804A>G	p.Lys1602Glu (p.K1602E)	NM_001375524.1 M	SNV	VUS	2 +	0
973887	TRRAP	c.8738G>A	p.Arg2913His (p.R2913H)	NM_001375524.1 M	SNV	VUS	1 +	0
1283529	TRRAP	c.898-46C>T	--	NM_001375524.1 M	SNV	B	2 +	0
2582431	TRRAP	c.11291C>T	p.Ala3764Val (p.A3764V)	NM_001375524.1 M	SNV	VUS	2 +	0
2575894	TRRAP	c.2573_2577del	p.Pro858fs (p.P858fs)	NM_001375524.1 M	Del	VUS	1 +	0
1269922	TRRAP	c.2200-46C>T	--	NM_001244580.2	SNV	B	2 +	0
1269922	TRRAP	c.2200-46C>T	--	NM_003496.4	SNV	B	2 +	0
2441838	TRRAP	c.5953A>C	p.Met1985Leu (p.M1985L)	NM_001244580.2	SNV	VUS	2 +	0

33 Results, 20 per Page

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