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Gene: HNRNPU & Disease: DEE54, 1179 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
203383	HNRNPU	c.2304_2305del	p.Gly769fs (p.G769fs)	NM_031844.3 M	MS	P	1 +	5
	HNRNPU	c.2247_2248delAG	--	NM_004501.3	MS	P	1 +	5
	HNRNPU	c.2247_2248del	p.Gly750fs (p.G750fs)	NM_004501.3	MS	P	1 +	5
1515365	HNRNPU	c.1743+1G>A	--	NM_031844.3 M	SNV	LP	1 +	4
1515365	HNRNPU	c.1686+1G>A	--	NM_004501.3	SNV	LP	1 +	4
406728	HNRNPU	c.307C>T	p.Gln103Ter (p.Q103X)	NM_031844.3 M	SNV	P	1 +	3
1066270	HNRNPU	c.2168-1del	--	NM_031844.3 M	Del	LP	1 +	3
267738	HNRNPU	c.651_660del	p.Gly218fs (p.G218fs)	NM_031844.3 M	Del	P	1 +	3
581357	HNRNPU	c.1117+1G>C	--	NM_031844.3 M	SNV	LP	1 +	3
1066807	HNRNPU	c.1118-1G>A	--	NM_031844.3 M	SNV	P	1 +	3
1066918	HNRNPU	c.803+2T>C	--	NM_031844.3 M	SNV	LP	1 +	3
406728	HNRNPU	c.307C>T	p.Gln103Ter (p.Q103X)	NM_004501.3	SNV	P	1 +	3
1066270	HNRNPU	c.2111-1del	--	NM_004501.3	Del	LP	1 +	3
267738	HNRNPU	c.634+17_634+26del	--	NM_004501.3	Del	P	1 +	3
581357	HNRNPU	c.1060+1G>C	--	NM_004501.3	SNV	LP	1 +	3
1066807	HNRNPU	c.1061-1G>A	--	NM_004501.3	SNV	P	1 +	3
1066918	HNRNPU	c.746+2T>C	--	NM_004501.3	SNV	LP	1 +	3
423944	HNRNPU	c.1118-7_1118-3del	--	NM_031844.3 M	Del	P	1 +	2
532562	HNRNPU	c.1117+6G>T	--	NM_031844.3 M	SNV	VUS	1 +	2
1073238	HNRNPU	c.2256_2260del	p.Tyr753fs (p.Y753fs)	NM_031844.3 M	Del	P	1 +	2

1179 Results, 20 per Page

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