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Gene: SEC63 & Disease: Polycystic Liver Disease, 26 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1255633	SEC63	c.292C>T	p.Arg98Ter (p.R98X)	NM_007214.5 M	SNV	P	3 +	1
1255547	SEC63	c.622G>C	p.Val208Leu (p.V208L)	NM_007214.5 M	SNV	LP	2 +	0
1255557	SEC63	c.105G>A	p.Trp35Ter (p.W35X)	NM_007214.5 M	SNV	P	2 +	0
1255563	SEC63	c.636G>A	p.Trp212Ter (p.W212X)	NM_007214.5 M	SNV	P	2 +	0
1255569	SEC63	c.2026A>G	p.Thr676Ala (p.T676A)	NM_007214.5 M	SNV	VUS	3 +	0
1255576	SEC63	c.693_694dup	p.Thr232fs (p.T232fs)	NM_007214.5 M	MS	P	2 +	0
1255587	SEC63	c.1895C>A	p.Ser632Ter (p.S632X)	NM_007214.5 M	SNV	P	3 +	0
1255599	SEC63	c.1577C>A	p.Ser526Ter (p.S526X)	NM_007214.5 M	SNV	P	2 +	0
1255605	SEC63	c.1434_1435del	p.Met479fs (p.M479fs)	NM_007214.5 M	Del	P	2 +	0
1255616	SEC63	c.422del	p.Met141fs (p.M141fs)	NM_007214.5 M	Del	P	2 +	0
1255620	SEC63	c.1810A>T	p.Lys604Ter (p.K604X)	NM_007214.5 M	SNV	P	2 +	0
1255621	SEC63	c.646A>G	p.Ile216Val (p.I216V)	NM_007214.5 M	SNV	LP	2 +	0
1255622	SEC63	c.359T>C	p.Ile120Thr (p.I120T)	NM_007214.5 M	SNV	LP	2 +	0
1255623	SEC63	c.359_366del	p.Ile120fs (p.I120fs)	NM_007214.5 M	Del	P	2 +	0
1255624	SEC63	c.2006_2007del	p.His669fs (p.H669fs)	NM_007214.5 M	Del	P	2 +	0
1255625	SEC63	c.1249G>T	p.Glu417Ter (p.E417X)	NM_007214.5 M	SNV	P	2 +	0
1255626	SEC63	c.958G>T	p.Glu320Ter (p.E320X)	NM_007214.5 M	SNV	P	2 +	0
1255628	SEC63	c.1629G>C	p.Gln543His (p.Q543H)	NM_007214.5 M	SNV	LP	2 +	0
1255629	SEC63	c.1124A>C	p.Gln375Pro (p.Q375P)	NM_007214.5 M	SNV	LP	2 +	0
1255630	SEC63	c.964del	p.Gln322fs (p.Q322fs)	NM_007214.5 M	Del	P	2 +	0

26 Results, 20 per Page

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