List of variants reported as likely benign for Hemochromatosis type 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 88

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014585.6(SLC40A1):c.744G>T (p.Gln248His)	rs11568350	0.01596
NM_014585.6(SLC40A1):c.877C>T (p.Arg293Cys)	rs149517113	0.00030
NM_014585.6(SLC40A1):c.760+14A>G	rs145600408	0.00026
NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val)	rs368420430	0.00022
NM_014585.6(SLC40A1):c.396C>T (p.Cys132=)	rs780668934	0.00009
NM_014585.6(SLC40A1):c.609C>T (p.Ile203=)	rs369846096	0.00006
NM_014585.6(SLC40A1):c.1256C>T (p.Thr419Ile)	rs200360961	0.00004
NM_014585.6(SLC40A1):c.138G>A (p.Val46=)	rs368258215	0.00004
NM_014585.6(SLC40A1):c.1402+10C>A	rs748632086	0.00003
NM_014585.6(SLC40A1):c.660C>T (p.Tyr220=)	rs368843037	0.00003
NM_014585.6(SLC40A1):c.825G>A (p.Glu275=)	rs780756130	0.00003
NM_014585.6(SLC40A1):c.1357A>T (p.Ile453Phe)	rs376571265	0.00002
NM_014585.6(SLC40A1):c.1371G>A (p.Leu457=)	rs375986187	0.00002
NM_014585.6(SLC40A1):c.1602C>A (p.Gly534=)	rs770368162	0.00002
NM_014585.6(SLC40A1):c.272-14C>T	rs771203234	0.00002
NM_014585.6(SLC40A1):c.44-4G>T	rs748493106	0.00002
NM_014585.6(SLC40A1):c.1119T>A (p.Gly373=)	rs767933590	0.00001
NM_014585.6(SLC40A1):c.1251A>G (p.Ser417=)	rs751897349	0.00001
NM_014585.6(SLC40A1):c.1395T>C (p.Ala465=)	rs201434761	0.00001
NM_014585.6(SLC40A1):c.271+10G>A	rs1216564998	0.00001
NM_014585.6(SLC40A1):c.306A>G (p.Ser102=)	rs201485374	0.00001
NM_014585.6(SLC40A1):c.43+9C>T	rs1206654530	0.00001
NM_014585.6(SLC40A1):c.515-9C>T	rs375536880	0.00001
NM_014585.6(SLC40A1):c.546G>A (p.Gln182=)	rs104893670	0.00001
NM_014585.6(SLC40A1):c.689C>A (p.Thr230Asn)	rs753603407	0.00001
NM_014585.6(SLC40A1):c.69T>C (p.Ser23=)	rs141664013	0.00001
NM_014585.6(SLC40A1):c.6C>G (p.Thr2=)	rs1196314348	0.00001
NM_014585.6(SLC40A1):c.718_720del (p.Lys240del)	rs570566899	0.00001
NM_014585.6(SLC40A1):c.-14G>C	rs773977347
NM_014585.6(SLC40A1):c.1005G>A (p.Gln335=)
NM_014585.6(SLC40A1):c.1008A>G (p.Gly336=)	rs1574237452
NM_014585.6(SLC40A1):c.1047A>G (p.Ser349=)
NM_014585.6(SLC40A1):c.1111C>T (p.Arg371Trp)
NM_014585.6(SLC40A1):c.112-19T>C
NM_014585.6(SLC40A1):c.1131A>C (p.Gly377=)	rs2030839564
NM_014585.6(SLC40A1):c.1191C>T (p.Pro397=)
NM_014585.6(SLC40A1):c.1225C>G (p.Arg409Gly)
NM_014585.6(SLC40A1):c.1248G>A (p.Glu416=)
NM_014585.6(SLC40A1):c.12G>A (p.Ala4=)	rs2031424990
NM_014585.6(SLC40A1):c.135G>A (p.Ala45=)
NM_014585.6(SLC40A1):c.1380A>G (p.Ala460=)	rs1038983318
NM_014585.6(SLC40A1):c.1383C>T (p.Gly461=)
NM_014585.6(SLC40A1):c.1403-13T>A
NM_014585.6(SLC40A1):c.1403-7A>G	rs1287540593
NM_014585.6(SLC40A1):c.1413C>G (p.Ser471=)	rs531382859
NM_014585.6(SLC40A1):c.1425T>C (p.Thr475=)
NM_014585.6(SLC40A1):c.1533C>T (p.Val511=)	rs1574236070
NM_014585.6(SLC40A1):c.1569C>G (p.Leu523=)
NM_014585.6(SLC40A1):c.1569C>T (p.Leu523=)	rs770129909
NM_014585.6(SLC40A1):c.1572A>G (p.Val524=)	rs2105618592
NM_014585.6(SLC40A1):c.271+10_271+12del	rs768786843
NM_014585.6(SLC40A1):c.271+14_271+15insTA
NM_014585.6(SLC40A1):c.271+16T>C
NM_014585.6(SLC40A1):c.291G>A (p.Val97=)
NM_014585.6(SLC40A1):c.294A>G (p.Val98=)
NM_014585.6(SLC40A1):c.321A>C (p.Gly107=)
NM_014585.6(SLC40A1):c.327C>A (p.Ile109=)	rs11568345
NM_014585.6(SLC40A1):c.387+12A>G
NM_014585.6(SLC40A1):c.387+8C>G	rs1286739662
NM_014585.6(SLC40A1):c.39C>T (p.Cys13=)	rs1574248991
NM_014585.6(SLC40A1):c.44-10G>T
NM_014585.6(SLC40A1):c.44-10_44-9del
NM_014585.6(SLC40A1):c.44-20C>A
NM_014585.6(SLC40A1):c.471T>C (p.Asp157=)
NM_014585.6(SLC40A1):c.514+16C>T
NM_014585.6(SLC40A1):c.514+20T>C
NM_014585.6(SLC40A1):c.515-15C>A
NM_014585.6(SLC40A1):c.515-4C>T
NM_014585.6(SLC40A1):c.525C>T (p.Ala175=)
NM_014585.6(SLC40A1):c.564C>T (p.Ala188=)
NM_014585.6(SLC40A1):c.651C>T (p.Cys217=)
NM_014585.6(SLC40A1):c.652G>A (p.Val218Met)
NM_014585.6(SLC40A1):c.657G>A (p.Glu219=)
NM_014585.6(SLC40A1):c.690C>T (p.Thr230=)
NM_014585.6(SLC40A1):c.72A>G (p.Ala24=)	rs1205057574
NM_014585.6(SLC40A1):c.736T>C (p.Leu246=)
NM_014585.6(SLC40A1):c.743A>T (p.Gln248Leu)
NM_014585.6(SLC40A1):c.760+11C>T
NM_014585.6(SLC40A1):c.760+15A>G
NM_014585.6(SLC40A1):c.761-14T>C
NM_014585.6(SLC40A1):c.761-19T>A
NM_014585.6(SLC40A1):c.776C>A (p.Pro259His)	rs560312863
NM_014585.6(SLC40A1):c.831A>G (p.Glu277=)
NM_014585.6(SLC40A1):c.846T>C (p.Pro282=)
NM_014585.6(SLC40A1):c.888A>T (p.Arg296=)
NM_014585.6(SLC40A1):c.912C>T (p.Asn304=)	rs1574237521
NM_014585.6(SLC40A1):c.930T>C (p.Ala310=)
NM_014585.6(SLC40A1):c.993C>T (p.Tyr331=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.