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Gene: RNF113A & Disease: TTD5, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
192382	RNF113A	c.901C>T	p.Gln301Ter (p.Q301X)	NM_006978.3 M	SNV	P	1 +	3
1029121	RNF113A	c.484T>C	p.Tyr162His (p.Y162H)	NM_006978.3 M	SNV	VUS	1 +	1
1029122	RNF113A	c.76G>A	p.Gly26Arg (p.G26R)	NM_006978.3 M	SNV	VUS	1 +	1
1229614	RNF113A	c.-11A>G	--	NM_006978.3 M	SNV	B	1 +	1
872888	RNF113A	c.897_898del	p.Cys299_Asp300delinsTer	NM_006978.3 M	MS	P	1 +	1
1312234	RNF113A	c.860T>C	p.Leu287Pro (p.L287P)	NM_006978.3 M	SNV	VUS	1 +	1
816875	RNF113A	c.903_910del	p.Gln302fs (p.Q302fs)	NM_006978.3 M	Del	P	1 +	1
816875	RNF113A	c.903_910delGCAGACCA	--	NM_006978.3 M	Del	P	1 +	1
2578338	RNF113A	c.890_891del	p.Tyr297fs (p.Y297fs)	NM_006978.3 M	Del	LP	1 +	0

9 Results, 20 per Page

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