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Gene: SDHC & Disease: PGGSS, 85 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
183753	SDHC	c.397C>T	p.Arg133Ter (p.R133X)	NM_003001.5 M	SNV	P	4 +	11
	SDHC	c.295C>T	p.Arg99Ter (p.R99X)	NM_001035512.3	SNV	P	4 +	11
	SDHC	c.238C>T	p.Arg80Ter (p.R80X)	NM_001035513.3	SNV	P	4 +	11
	SDHC	c.517C>T	p.Arg173Ter (p.R173X)	NM_001407115.1	SNV	P	4 +	11
	SDHC	c.340C>T	p.Arg114Ter (p.R114X)	NM_001407116.1	SNV	P	4 +	11
	SDHC	c.334C>T	p.Arg112Ter (p.R112X)	NM_001407117.1	SNV	P	4 +	11
	SDHC	c.289C>T	p.Arg97Ter (p.R97X)	NM_001407118.1	SNV	P	4 +	11
	SDHC	c.286C>T	p.Arg96Ter (p.R96X)	NM_001407119.1	SNV	P	4 +	11
	SDHC	c.286C>T	p.Arg96Ter (p.R96X)	NM_001407120.1	SNV	P	4 +	11
	SDHC	c.242-5497C>T	--	NM_001035511.3	SNV	P	4 +	11
	SDHC	c.140-5497C>T	--	NM_001278172.3	SNV	P	4 +	11
	SDHC	c.185-5497C>T	--	NM_001407121.1	SNV	P	4 +	11
7244	SDHC	c.405+1G>A	--	NM_003001.5 M	SNV	P	5 +	8
	SDHC	c.294+1G>A	--	NM_001407120.1	SNV	P	5 +	8
	SDHC	c.525+1G>A	--	NM_001407115.1	SNV	P	5 +	8
	SDHC	c.242-5488G>A	--	NM_001035511.3	SNV	P	5 +	8
	SDHC	c.294+1G>A	--	NM_001407119.1	SNV	P	5 +	8
	SDHC	c.303+1G>A	--	NM_001035512.3	SNV	P	5 +	8
	SDHC	c.140-5488G>A	--	NM_001278172.3	SNV	P	5 +	8
	SDHC	c.297+1G>A	--	NM_001407118.1	SNV	P	5 +	8

85 Results, 20 per Page

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