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Gene: SLC10A1 & Disease: FHCA2, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
501461	SLC10A1	c.800C>T	p.Ser267Phe (p.S267F)	NM_003049.4 M	SNV	P	1 +	6
597217	SLC10A1	c.122C>T	p.Ser41Leu (p.S41L)	NM_003049.4 M	SNV	VUS	1 +	1
598530	SLC10A1	c.263T>C	p.Ile88Thr (p.I88T)	NM_003049.4 M	SNV	P	1 +	1
2435962	SLC10A1	c.603C>T	p.Ala201= (p.A201=)	NM_003049.4 M	SNV	VUS	1 +	1
1705419	SLC10A1	c.713_717del	p.Tyr238fs (p.Y238fs)	NM_003049.4 M	Del	LP	1 +	1
501945	SLC10A1	c.755G>A	p.Arg252His (p.R252H)	NM_003049.4 M	SNV	P	1 +	1
594061	SLC10A1	c.559G>C	p.Val187Leu (p.V187L)	NM_003049.4 M	SNV	VUS	1 +	0
2444366	SLC10A1	c.806T>G	p.Ile269Ser (p.I269S)	NM_003049.4 M	SNV	VUS	1 +	0

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