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Gene: IHH & Disease: ACFD, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8870	IHH	c.137C>T	p.Pro46Leu (p.P46L)	NM_002181.4 M	SNV	P	1 +	1
1691308	IHH	c.217C>T	p.Arg73Cys (p.R73C)	NM_002181.4 M	SNV	VUS	1 +	1
1217222	IHH	c.478C>T	p.Arg160Cys (p.R160C)	NM_002181.4 M	SNV	P	1 +	1
8871	IHH	c.569T>C	p.Val190Ala (p.V190A)	NM_002181.4 M	SNV	P	1 +	1
800998	IHH	c.53_78delinsGGGCC	p.Leu18_Trp26delinsArgAla	NM_002181.4 M	Indel	VUS	1 +	0
1030530	IHH	c.88C>A	p.Pro30Thr (p.P30T)	NM_002181.4 M	SNV	VUS	1 +	0
800918	IHH	c.352G>A	p.Val118Met (p.V118M)	NM_002181.4 M	SNV	LP	1 +	0
2572410	IHH	c.518C>A	p.Ala173Asp (p.A173D)	NM_002181.4 M	SNV	VUS	1 +	0
334443	IHH	c.600G>A	p.Thr200= (p.T200=)	NM_002181.4 M	SNV	B	2 +	0
334440	IHH	c.753T>C	p.Pro251= (p.P251=)	NM_002181.4 M	SNV	B	2 +	0
334437	IHH	c.819C>T	p.Pro273= (p.P273=)	NM_002181.4 M	SNV	LB	2 +	0
1683476	IHH	c.851C>T	p.Thr284Met (p.T284M)	NM_002181.4 M	SNV	VUS	1 +	0
1683475	IHH	c.1021G>A	p.Glu341Lys (p.E341K)	NM_002181.4 M	SNV	VUS	1 +	0
593247	IHH	c.1128T>C	p.Thr376= (p.T376=)	NM_002181.4 M	SNV	B	1 +	0

14 Results, 20 per Page

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