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Gene: FKBP6 & Disease: Male Infertility, 20 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1684034	FKBP6	c.832C>T	p.Arg278Ter (p.R278X)	NM_003602.5 M	SNV	P	2 +	1
1683495	FKBP6	c.610C>T	p.Arg204Ter (p.R204X)	NM_003602.5 M	SNV	P	2 +	1
1684032	FKBP6	c.589-2A>G	--	NM_003602.5 M	SNV	P	2 +	1
1684033	FKBP6	c.508_529dup	p.Phe177fs (p.F177fs)	NM_003602.5 M	Dup	P	2 +	1
1684035	FKBP6	c.469-2A>T	--	NM_003602.5 M	SNV	P	2 +	1
1684034	FKBP6	c.817C>T	p.Arg273Ter (p.R273X)	NM_001135211.3	SNV	P	2 +	1
	FKBP6	c.742C>T	p.Arg248Ter (p.R248X)	NM_001281304.2	SNV	P	2 +	1
	FKBP6	c.697C>T	p.Arg233Ter (p.R233X)	NM_001362789.2	SNV	P	2 +	1
1683495	FKBP6	c.595C>T	p.Arg199Ter (p.R199X)	NM_001135211.3	SNV	P	2 +	1
	FKBP6	c.520C>T	p.Arg174Ter (p.R174X)	NM_001281304.2	SNV	P	2 +	1
	FKBP6	c.475C>T	p.Arg159Ter (p.R159X)	NM_001362789.2	SNV	P	2 +	1
1684032	FKBP6	c.499-2A>G	--	NM_001281304.2	SNV	P	2 +	1
	FKBP6	c.574-2A>G	--	NM_001135211.3	SNV	P	2 +	1
	FKBP6	c.454-2A>G	--	NM_001362789.2	SNV	P	2 +	1
1684033	FKBP6	c.493_514dup	p.Phe172fs (p.F172fs)	NM_001135211.3	Dup	P	2 +	1
	FKBP6	c.418_439dup	p.Phe147fs (p.F147fs)	NM_001281304.2	Dup	P	2 +	1
	FKBP6	c.453+1344_453+1365dup	--	NM_001362789.2	Dup	P	2 +	1
1684035	FKBP6	c.379-2A>T	--	NM_001281304.2	SNV	P	2 +	1
	FKBP6	c.454-2A>T	--	NM_001135211.3	SNV	P	2 +	1
	FKBP6	c.453+1303A>T	--	NM_001362789.2	SNV	P	2 +	1

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