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Gene: CACNA1D & Disease: SANDD, 111 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
39709	CACNA1D	c.1220+678_1220+679insGGG	--	NM_001128840.3 M	Ins	P	1 +	2
402284	CACNA1D	c.1220+597C>T	--	NM_001128840.3 M	SNV	P	1 +	2
39709	CACNA1D	c.1208_1209insGGG	p.Gly403Dup (p.G403dup)	NM_000720.4 MP	Ins	P	1 +	2
402284	CACNA1D	c.1127C>T	p.Ala376Val (p.A376V)	NM_000720.4 MP	SNV	P	1 +	2
39709	CACNA1D	c.1220+678_1220+679insGGG	--	NM_001128839.3	Ins	P	1 +	2
402284	CACNA1D	c.1220+597C>T	--	NM_001128839.3	SNV	P	1 +	2
1438559	CACNA1D	c.6349G>A	p.Gly2117Arg (p.G2117R)	NM_001128840.3 M	SNV	VUS	2 +	0
226478	CACNA1D	c.6348C>T	p.Asn2116= (p.N2116=)	NM_001128840.3 M	SNV	B	2 +	0
1405751	CACNA1D	c.6076A>G	p.Thr2026Ala (p.T2026A)	NM_001128840.3 M	SNV	VUS	2 +	0
634554	CACNA1D	c.5837G>A	p.Arg1946His (p.R1946H)	NM_001128840.3 M	SNV	VUS	2 +	0
227204	CACNA1D	c.5767_5769del	p.Phe1923Del (p.F1923del)	NM_001128840.3 M	Del	LB	2 +	0
634553	CACNA1D	c.5498A>G	p.Tyr1833Cys (p.Y1833C)	NM_001128840.3 M	SNV	VUS	2 +	0
504809	CACNA1D	c.5296G>C	p.Ala1766Pro (p.A1766P)	NM_001128840.3 M	SNV	LB	2 +	0
1192681	CACNA1D	c.4690+42G>A	--	NM_001128840.3 M	SNV	B	2 +	0
1192680	CACNA1D	c.4045-43G>A	--	NM_001128840.3 M	SNV	B	2 +	0
1192679	CACNA1D	c.4045-57G>C	--	NM_001128840.3 M	SNV	B	2 +	0
226474	CACNA1D	c.3892C>T	p.Pro1298Ser (p.P1298S)	NM_001128840.3 M	SNV	LB	2 +	0
1426310	CACNA1D	c.3413T>C	p.Ile1138Thr (p.I1138T)	NM_001128840.3 M	SNV	VUS	2 +	0
1443910	CACNA1D	c.3038G>A	p.Arg1013Gln (p.R1013Q)	NM_001128840.3 M	SNV	VUS	2 +	0
1192678	CACNA1D	c.3007-71G>C	--	NM_001128840.3 M	SNV	B	2 +	0

111 Results, 20 per Page

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