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Gene: HERC1 & Disease: MDFPMR, 58 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1248193	HERC1	c.5675-7A>G	--	NM_003922.4 M	SNV	B	1 +	2
1214609	HERC1	c.1988C>G	p.Ala663Gly (p.A663G)	NM_003922.4 M	SNV	LB	1 +	2
795963	HERC1	c.2319C>T	p.Asn773= (p.N773=)	NM_003922.4 M	SNV	LB	1 +	2
1032166	HERC1	c.3574T>C	p.Cys1192Arg (p.C1192R)	NM_003922.4 M	SNV	VUS	1 +	2
1221445	HERC1	c.3743-8A>G	--	NM_003922.4 M	SNV	B	1 +	2
1032167	HERC1	c.4631A>G	p.Lys1544Arg (p.K1544R)	NM_003922.4 M	SNV	LB	1 +	2
1270672	HERC1	c.5087G>C	p.Gly1696Ala (p.G1696A)	NM_003922.4 M	SNV	B	1 +	2
714628	HERC1	c.6195A>G	p.Thr2065= (p.T2065=)	NM_003922.4 M	SNV	LB	1 +	2
1260045	HERC1	c.6658A>G	p.Ile2220Val (p.I2220V)	NM_003922.4 M	SNV	B	1 +	2
1032168	HERC1	c.7088C>T	p.Ser2363Leu (p.S2363L)	NM_003922.4 M	SNV	VUS	1 +	2
373369	HERC1	c.7615G>A	p.Ala2539Thr (p.A2539T)	NM_003922.4 M	SNV	VUS	1 +	2
1285339	HERC1	c.9223+19T>C	--	NM_003922.4 M	SNV	B	1 +	2
1285340	HERC1	c.9093G>A	p.Pro3031= (p.P3031=)	NM_003922.4 M	SNV	B	1 +	2
1028683	HERC1	c.9439G>A	p.Val3147Ile (p.V3147I)	NM_003922.4 M	SNV	VUS	1 +	2
730607	HERC1	c.10547-7C>T	--	NM_003922.4 M	SNV	LB	1 +	2
1031369	HERC1	c.10739G>A	p.Arg3580Gln (p.R3580Q)	NM_003922.4 M	SNV	VUS	1 +	2
1243466	HERC1	c.11166G>C	p.Glu3722Asp (p.E3722D)	NM_003922.4 M	SNV	B	1 +	2
1028676	HERC1	c.11230C>T	p.Arg3744Trp (p.R3744W)	NM_003922.4 M	SNV	VUS	1 +	2
1187133	HERC1	c.11332-15T>C	--	NM_003922.4 M	SNV	LB	1 +	2
1279199	HERC1	c.11433+7T>C	--	NM_003922.4 M	SNV	B	1 +	2

58 Results, 20 per Page

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