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Gene: COL12A1 & Disease: UCMD2, 4188 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
579878	COL12A1	c.395-2A>C	--	NM_004370.6 M	SNV	LP	2 +	5
579878	COL12A1	c.73+12903A>C	--	NM_080645.3	SNV	LP	2 +	5
475898	COL12A1	c.8276G>A	p.Gly2759Asp (p.G2759D)	NM_004370.6 M	SNV	VUS	2 +	4
1467502	COL12A1	c.8265+1G>A	--	NM_004370.6 M	SNV	LP	2 +	4
1000751	COL12A1	c.8321G>A	p.Gly2774Glu (p.G2774E)	NM_004370.6 M	SNV	VUS	2 +	4
1805426	COL12A1	c.8938C>T	p.Arg2980Ter (p.R2980X)	NM_004370.6 M	SNV	VUS	1 +	4
475898	COL12A1	c.4784G>A	p.Gly1595Asp (p.G1595D)	NM_080645.3	SNV	VUS	2 +	4
1467502	COL12A1	c.4773+1G>A	--	NM_080645.3	SNV	LP	2 +	4
1000751	COL12A1	c.4829G>A	p.Gly1610Glu (p.G1610E)	NM_080645.3	SNV	VUS	2 +	4
1805426	COL12A1	c.5446C>T	p.Arg1816Ter (p.R1816X)	NM_080645.3	SNV	VUS	1 +	4
2136437	COL12A1	c.5269C>T	p.Arg1757Ter (p.R1757X)	NM_004370.6 M	SNV	P	2 +	3
2112585	COL12A1	c.8100+2T>G	--	NM_004370.6 M	SNV	P	2 +	3
1522794	COL12A1	c.8101-1G>T	--	NM_004370.6 M	SNV	LP	2 +	3
1473846	COL12A1	c.8393_8415+5del	--	NM_004370.6 M	Del	LP	2 +	3
949905	COL12A1	c.8319+1G>C	--	NM_004370.6 M	SNV	LP	3 +	3
851983	COL12A1	c.8179-2A>G	--	NM_004370.6 M	SNV	LP	2 +	3
950749	COL12A1	c.8415+1G>C	--	NM_004370.6 M	SNV	LP	2 +	3
1066887	COL12A1	c.6872-2A>G	--	NM_004370.6 M	SNV	LP	2 +	3
1493731	COL12A1	c.5664+1G>A	--	NM_004370.6 M	SNV	LP	2 +	3
986252	COL12A1	c.6067+1G>A	--	NM_004370.6 M	SNV	LP	2 +	3

4188 Results, 20 per Page

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