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Gene: ABCC8 & Disease: Monogenic Diabetes, 85 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
210071	ABCC8	c.1858C>T	p.Arg620Cys (p.R620C)	NM_000352.6 M	SNV	LB	3 +	12
	ABCC8	c.1858C>T	p.Arg620Cys (p.R620C)	NM_001287174.3	SNV	LB	3 +	12
	ABCC8	c.1858C>T	p.Arg620Cys (p.R620C)	NM_001351295.2	SNV	LB	3 +	12
	ABCC8	c.1855C>T	p.Arg619Cys (p.R619C)	NM_001351296.2	SNV	LB	3 +	12
	ABCC8	c.1855C>T	p.Arg619Cys (p.R619C)	NM_001351297.2	SNV	LB	3 +	12
35609	ABCC8	c.3517G>A	p.Val1173Met (p.V1173M)	NM_000352.6 M	SNV	LP	11 +	10
434043	ABCC8	c.4563G>T	p.Lys1521Asn (p.K1521N)	NM_000352.6 M	SNV	LB	3 +	10
434053	ABCC8	c.2992C>T	p.Arg998Ter (p.R998X)	NM_000352.6 M	SNV	P	3 +	10
35609	ABCC8	c.3520G>A	p.Val1174Met (p.V1174M)	NM_001287174.3	SNV	LP	11 +	10
	ABCC8	c.3583G>A	p.Val1195Met (p.V1195M)	NM_001351295.2	SNV	LP	11 +	10
	ABCC8	c.3517G>A	p.Val1173Met (p.V1173M)	NM_001351296.2	SNV	LP	11 +	10
	ABCC8	c.3514G>A	p.Val1172Met (p.V1172M)	NM_001351297.2	SNV	LP	11 +	10
434043	ABCC8	c.4566G>T	p.Lys1522Asn (p.K1522N)	NM_001287174.3	SNV	LB	3 +	10
	ABCC8	c.4629G>T	p.Lys1543Asn (p.K1543N)	NM_001351295.2	SNV	LB	3 +	10
	ABCC8	c.4563G>T	p.Lys1521Asn (p.K1521N)	NM_001351296.2	SNV	LB	3 +	10
	ABCC8	c.4560G>T	p.Lys1520Asn (p.K1520N)	NM_001351297.2	SNV	LB	3 +	10
434053	ABCC8	c.2995C>T	p.Arg999Ter (p.R999X)	NM_001287174.3	SNV	P	3 +	10
	ABCC8	c.3058C>T	p.Arg1020Ter (p.R1020X)	NM_001351295.2	SNV	P	3 +	10
	ABCC8	c.2992C>T	p.Arg998Ter (p.R998X)	NM_001351296.2	SNV	P	3 +	10
	ABCC8	c.2989C>T	p.Arg997Ter (p.R997X)	NM_001351297.2	SNV	P	3 +	10

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