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Gene: MYBPC3 & Disease: Hypertrophic Cardiomyopathy, 2372 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8608	MYBPC3	c.1624G>C	p.Glu542Gln (p.E542Q)	NM_000256.3 M	SNV	P	6 +	55
42792	MYBPC3	c.772G>A	p.Glu258Lys (p.E258K)	NM_000256.3 M	SNV	P	4 +	52
42540	MYBPC3	c.1504C>T	p.Arg502Trp (p.R502W)	NM_000256.3 M	SNV	P	4 +	44
42619	MYBPC3	c.2373dup	p.Trp792fs (p.W792fs)	NM_000256.3 M	Dup	P	4 +	44
	MYBPC3	c.2373dupG	--	NM_000256.3 M	Dup	P	4 +	44
	MYBPC3	c.2372_2373insG	--	NM_000256.3 M	Dup	P	4 +	44
164113	MYBPC3	c.1484G>A	p.Arg495Gln (p.R495Q)	NM_000256.3 M	SNV	P	4 +	41
164114	MYBPC3	c.1483C>T	p.Arg495Trp (p.R495W)	NM_000256.3 M	SNV	P	3 +	37
177700	MYBPC3	c.2441_2443delAGA	--	NM_000256.3 M	MS	LP	3 +	36
177700	MYBPC3	c.2432AGA[3]	p.Lys814Del (p.K814del)	NM_000256.3 M	MS	LP	3 +	36
8617	MYBPC3	c.2459G>A	p.Arg820Gln (p.R820Q)	NM_000256.3 M	SNV	P	4 +	35
42550	MYBPC3	c.1591G>C	p.Gly531Arg (p.G531R)	NM_000256.3 M	SNV	P	5 +	33
42752	MYBPC3	c.442G>A	p.Gly148Arg (p.G148R)	NM_000256.3 M	SNV	P	3 +	33
42735	MYBPC3	c.3697C>T	p.Gln1233Ter (p.Q1233X)	NM_000256.3 M	SNV	P	4 +	31
37039	MYBPC3	c.2827C>T	p.Arg943Ter (p.R943X)	NM_000256.3 M	SNV	P	2 +	31
177902	MYBPC3	c.1000G>A	p.Glu334Lys (p.E334K)	NM_000256.3 M	SNV	P	4 +	31
42620	MYBPC3	c.2429G>A	p.Arg810His (p.R810H)	NM_000256.3 M	SNV	LP	3 +	30
42663	MYBPC3	c.2864_2865delCT	--	NM_000256.3 M	Del	P	4 +	30
42693	MYBPC3	c.3192dupC	--	NM_000256.3 M	Dup	P	1 +	29
42693	MYBPC3	c.3192dup	p.Lys1065fs (p.K1065fs)	NM_000256.3 M	Dup	P	1 +	29

2372 Results, 20 per Page

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