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Gene: GIMAP1-GIMAP5 & Disease: NCPH2, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1188820	GIMAP1-GIMAP5	c.1223T>C	p.Leu408Pro (p.L408P)	NM_001199577.2	SNV	P	2 +	3
1188820	GIMAP1-GIMAP5	c.839T>C	p.Leu280Pro (p.L280P)	NM_001303630.2	SNV	P	2 +	3
1344844	GIMAP1-GIMAP5	c.752T>C	p.Ile251Thr (p.I251T)	NM_001199577.2	SNV	P	2 +	1
1344844	GIMAP1-GIMAP5	c.368T>C	p.Ile123Thr (p.I123T)	NM_001303630.2	SNV	P	2 +	1
1344845	GIMAP1-GIMAP5	c.1279C>T	p.Leu427Phe (p.L427F)	NM_001199577.2	SNV	P	2 +	1
1344845	GIMAP1-GIMAP5	c.895C>T	p.Leu299Phe (p.L299F)	NM_001303630.2	SNV	P	2 +	1
1344846	GIMAP1-GIMAP5	c.938C>T	p.Pro313Leu (p.P313L)	NM_001199577.2	SNV	P	2 +	1
1344846	GIMAP1-GIMAP5	c.554C>T	p.Pro185Leu (p.P185L)	NM_001303630.2	SNV	P	2 +	1

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