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Gene: LYRM7 & Disease: MC3DN8, 24 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1323256	LYRM7	c.2T>C	p.Met1Thr (p.M1T)	NM_181705.4 M	SNV	P	1 +	2
135664	LYRM7	c.73G>A	p.Asp25Asn (p.D25N)	NM_181705.4 M	SNV	P	1 +	2
1323256	LYRM7	c.2T>C	p.Met1Thr (p.M1T)	NM_001293735.2	SNV	P	1 +	2
135664	LYRM7	c.73G>A	p.Asp25Asn (p.D25N)	NM_001293735.2	SNV	P	1 +	2
223134	LYRM7	c.244+5dup	--	NM_181705.4 M	Dup	P	1 +	1
223135	LYRM7	c.190TTA[3]	p.Leu66Dup (p.L66dup)	NM_181705.4 M	MS	P	1 +	1
223136	LYRM7	c.214C>T	p.Gln72Ter (p.Q72X)	NM_181705.4 M	SNV	P	1 +	1
223137	LYRM7	c.37del	p.Thr13fs (p.T13fs)	NM_181705.4 M	Del	P	1 +	1
223134	LYRM7	c.162+4815dup	--	NM_001293735.2	Dup	P	1 +	1
223135	LYRM7	c.162+4755ATT[3]	--	NM_001293735.2	MS	P	1 +	1
223136	LYRM7	c.162+4780C>T	--	NM_001293735.2	SNV	P	1 +	1
223137	LYRM7	c.37del	p.Thr13fs (p.T13fs)	NM_001293735.2	Del	P	1 +	1
1712258	LYRM7	c.309del	p.Lys103fs (p.K103fs)	NM_181705.4 M	Del	LP	1 +	0
870569	LYRM7	c.244+6T>G	--	NM_181705.4 M	SNV	VUS	1 +	0
1687220	LYRM7	c.120C>A	p.Phe40Leu (p.F40L)	NM_181705.4 M	SNV	VUS	1 +	0
1027904	LYRM7	c.264C>A	p.Asp88Glu (p.D88E)	NM_181705.4 M	SNV	VUS	1 +	0
1904336	LYRM7	c.142TCT[1]	p.Ser49Del (p.S49del)	NM_181705.4 M	MS	VUS	1 +	0
638440	LYRM7	c.214C>G	p.Gln72Glu (p.Q72E)	NM_181705.4 M	SNV	LP	1 +	0
1712258	LYRM7	c.*35del	--	NM_001293735.2	Del	LP	1 +	0
870569	LYRM7	c.162+4816T>G	--	NM_001293735.2	SNV	VUS	1 +	0

24 Results, 20 per Page

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