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Gene: C8A & Disease: C8D1, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1023205	C8A	c.1270C>T	p.Arg424Ter (p.R424X)	NM_000562.3 M	SNV	P	1 +	2
17039	C8A	c.277C>A	p.Gln93Lys (p.Q93K)	NM_000562.3 M	SNV	B	1 +	1
29660	C8A	c.171+1G>T	--	NM_000562.3 M	SNV	P	1 +	1
791416	C8A	c.606T>C	p.Asp202= (p.D202=)	NM_000562.3 M	SNV	LB	1 +	0
1164179	C8A	c.107C>A	p.Ala36Glu (p.A36E)	NM_000562.3 M	SNV	B	1 +	0
626068	C8A	c.1589A>T	p.Gln530Leu (p.Q530L)	NM_000562.3 M	SNV	VUS	1 +	0
789429	C8A	c.1331G>A	p.Arg444His (p.R444H)	NM_000562.3 M	SNV	LB	1 +	0

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