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Gene: HCFC1 & Disease: MAHCX, 404 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
66985	HCFC1	c.218C>T	p.Ala73Val (p.A73V)	NM_005334.3 M	SNV	P	3 +	6
66984	HCFC1	c.344C>T	p.Ala115Val (p.A115V)	NM_005334.3 M	SNV	P	2 +	5
66984	HCFC1	c.344C>T	p.Ala115Val (p.A115V)	NM_001410705.1	SNV	P	2 +	5
710703	HCFC1	c.5490G>A	p.Leu1830= (p.L1830=)	NM_005334.3 M	SNV	B	1 +	2
518193	HCFC1	c.3963A>G	p.Pro1321= (p.P1321=)	NM_005334.3 M	SNV	LB	1 +	2
211131	HCFC1	c.2691G>A	p.Ala897= (p.A897=)	NM_005334.3 M	SNV	LB	1 +	2
211132	HCFC1	c.2872A>G	p.Thr958Ala (p.T958A)	NM_005334.3 M	SNV	LB	1 +	2
211135	HCFC1	c.3690G>A	p.Ala1230= (p.A1230=)	NM_005334.3 M	SNV	LB	1 +	2
211137	HCFC1	c.905-3C>T	--	NM_005334.3 M	SNV	VUS	1 +	2
129218	HCFC1	c.2283C>G	p.Thr761= (p.T761=)	NM_005334.3 M	SNV	LB	1 +	2
129220	HCFC1	c.3290A>C	p.Asn1097Thr (p.N1097T)	NM_005334.3 M	SNV	LB	1 +	2
129222	HCFC1	c.4542G>T	p.Leu1514= (p.L1514=)	NM_005334.3 M	SNV	LB	1 +	2
424226	HCFC1	c.4619C>T	p.Thr1540Ile (p.T1540I)	NM_005334.3 M	SNV	LB	1 +	2
1446249	HCFC1	c.5192A>G	p.Asn1731Ser (p.N1731S)	NM_005334.3 M	SNV	VUS	1 +	2
235900	HCFC1	c.1429G>A	p.Ala477Thr (p.A477T)	NM_005334.3 M	SNV	LB	1 +	2
387453	HCFC1	c.3903C>T	p.Thr1301= (p.T1301=)	NM_005334.3 M	SNV	LB	1 +	2
1640844	HCFC1	c.5206C>T	p.Leu1736= (p.L1736=)	NM_005334.3 M	SNV	LB	1 +	2
385436	HCFC1	c.4725C>T	p.Pro1575= (p.P1575=)	NM_005334.3 M	SNV	LB	1 +	2
582050	HCFC1	c.4153A>G	p.Arg1385Gly (p.R1385G)	NM_005334.3 M	SNV	LB	1 +	2
377326	HCFC1	c.4159G>A	p.Val1387Met (p.V1387M)	NM_005334.3 M	SNV	LB	1 +	2

404 Results, 20 per Page

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