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Gene: ABCA12 & Disease: LI, 20 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
419453	ABCA12	c.7444C>T	p.Arg2482Ter (p.R2482X)	NM_173076.3 M	SNV	P	2 +	7
419453	ABCA12	c.6490C>T	p.Arg2164Ter (p.R2164X)	NM_015657.4	SNV	P	2 +	7
2862	ABCA12	c.6610C>T	p.Arg2204Ter (p.R2204X)	NM_173076.3 M	SNV	P	3 +	4
2862	ABCA12	c.5656C>T	p.Arg1886Ter (p.R1886X)	NM_015657.4	SNV	P	3 +	4
1385145	ABCA12	c.1210C>T	p.Arg404Ter (p.R404X)	NM_173076.3 M	SNV	P	1 +	2
1385145	ABCA12	c.256C>T	p.Arg86Ter (p.R86X)	NM_015657.4	SNV	P	1 +	2
334213	ABCA12	c.522_524dup	--	NM_173076.3 M	Dup	VUS	1 +	0
2445846	ABCA12	c.4989dup	p.Thr1665fs (p.T1665fs)	NM_173076.3 M	Dup	LP	1 +	0
334236	ABCA12	c.5381+11_5381+14del	--	NM_173076.3 M	MS	LB	1 +	0
2501013	ABCA12	c.6781_6782dup	p.Thr2262fs (p.T2262fs)	NM_173076.3 M	Dup	LP	1 +	0
334223	ABCA12	c.7240-17_7240-15del	--	NM_173076.3 M	MS	B	1 +	0
334212	ABCA12	c.*539dup	--	NM_173076.3 M	Dup	LB	1 +	0
334204	ABCA12	c.1052_1055dup	--	NM_173076.3 M	Dup	B	1 +	0
334213	ABCA12	c.522_524dup	--	NM_015657.4	Dup	VUS	1 +	0
2445846	ABCA12	c.4035dup	p.Thr1347fs (p.T1347fs)	NM_015657.4	Dup	LP	1 +	0
334236	ABCA12	c.4427+11_4427+14del	--	NM_015657.4	MS	LB	1 +	0
2501013	ABCA12	c.5827_5828dup	p.Thr1944fs (p.T1944fs)	NM_015657.4	Dup	LP	1 +	0
334223	ABCA12	c.6286-17_6286-15del	--	NM_015657.4	MS	B	1 +	0
334212	ABCA12	c.*539dup	--	NM_015657.4	Dup	LB	1 +	0
334204	ABCA12	c.1052_1055dup	--	NM_015657.4	Dup	B	1 +	0

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