List of variants studied for Hypermanganesemia with dystonia, polycythemia, and cirrhosis by GeneReviews

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr)	rs770740586
NM_018713.3(SLC30A10):c.1046T>C (p.Leu349Pro)	rs281860291
NM_018713.3(SLC30A10):c.1235del (p.Gln412fs)	rs281860292
NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro)	rs281860284
NM_018713.3(SLC30A10):c.292_402del (p.Val98_Phe134del)	rs1553313839
NM_018713.3(SLC30A10):c.314_322del (p.Ala105_Pro107del)	rs281860285
NM_018713.3(SLC30A10):c.460C>T (p.Gln154Ter)	rs1057519589
NM_018713.3(SLC30A10):c.492del (p.Gly165fs)	rs1057519590
NM_018713.3(SLC30A10):c.496_553del (p.Ala166fs)	rs1553313783
NM_018713.3(SLC30A10):c.500T>C (p.Phe167Ser)	rs281860286
NM_018713.3(SLC30A10):c.507del (p.Pro170fs)	rs281860287
NM_018713.3(SLC30A10):c.585del (p.Thr196fs)	rs281860288
NM_018713.3(SLC30A10):c.765_767del (p.Val256del)	rs281860289
NM_018713.3(SLC30A10):c.922C>T (p.Gln308Ter)	rs281860290
nsv1067840

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.