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Gene: TGM5 & Disease: PSS1, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
157570	TGM5	c.640del	p.Leu214fs (p.L214fs)	NM_201631.4 M	Del	P	2 +	1
157570	TGM5	c.394del	p.Leu132fs (p.L132fs)	NM_004245.4	Del	P	2 +	1
803071	TGM5	c.684+1G>A	--	NM_201631.4 M	SNV	LP	1 +	0
316058	TGM5	c.753C>T	p.Asn251= (p.N251=)	NM_201631.4 M	SNV	VUS	1 +	0
803071	TGM5	c.438+1G>A	--	NM_004245.4	SNV	LP	1 +	0
316058	TGM5	c.507C>T	p.Asn169= (p.N169=)	NM_004245.4	SNV	VUS	1 +	0

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