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Gene: HAX1 & Disease: SCN3, 563 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
578906	HAX1	c.430dup	p.Val144fs (p.V144fs)	NM_006118.4 M	Dup	P	2 +	11
578906	HAX1	c.286dup	p.Val96fs (p.V96fs)	NM_001018837.2	Dup	P	2 +	11
419887	HAX1	c.91del	p.Glu31fs (p.E31fs)	NM_006118.4 M	Del	P	3 +	8
419887	HAX1	c.54-107del	--	NM_001018837.2	Del	P	3 +	8
4654	HAX1	c.256C>T	p.Arg86Ter (p.R86X)	NM_006118.4 M	SNV	P	2 +	5
4654	HAX1	c.112C>T	p.Arg38Ter (p.R38X)	NM_001018837.2	SNV	P	2 +	5
4650	HAX1	c.568C>T	p.Gln190Ter (p.Q190X)	NM_006118.4 M	SNV	P	2 +	4
4650	HAX1	c.424C>T	p.Gln142Ter (p.Q142X)	NM_001018837.2	SNV	P	2 +	4
4651	HAX1	c.130_131insA	p.Trp44Ter (p.W44X)	NM_006118.4 M	Ins	P	2 +	3
4656	HAX1	c.125dup	p.Ser43fs (p.S43fs)	NM_006118.4 M	Dup	P	2 +	3
800902	HAX1	c.463dup	p.Gln155fs (p.Q155fs)	NM_006118.4 M	Dup	P	2 +	3
4651	HAX1	c.54-68_54-67insA	--	NM_001018837.2	Ins	P	2 +	3
4656	HAX1	c.54-73dup	--	NM_001018837.2	Dup	P	2 +	3
800902	HAX1	c.319dup	p.Gln107fs (p.Q107fs)	NM_001018837.2	Dup	P	2 +	3
1525761	HAX1	c.664-1G>T	--	NM_006118.4 M	SNV	LP	2 +	2
1438742	HAX1	c.368_381del	p.Gln123fs (p.Q123fs)	NM_006118.4 M	Del	P	2 +	2
2170392	HAX1	c.556+1G>A	--	NM_006118.4 M	SNV	LP	3 +	2
653855	HAX1	c.317-2A>G	--	NM_006118.4 M	SNV	LP	2 +	2
2191996	HAX1	c.316+4T>G	--	NM_006118.4 M	SNV	VUS	2 +	2
1492611	HAX1	c.54-2A>T	--	NM_006118.4 M	SNV	LP	2 +	2

563 Results, 20 per Page

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