List of variants studied for X-linked disease by Counsyl

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

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)	rs61752068	0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His)	rs281865355	0.00001
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)	rs886044777
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	rs387906494
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)	rs62645894
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)	rs61752060
NM_000330.4(RS1):c.422G>A (p.Arg141His)	rs61752159
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter)	rs1057516744
NM_000330.4(RS1):c.522+1G>A	rs281865348
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	rs61753174
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)	rs104894930
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)	rs281865361
NM_000330.4(RS1):c.673T>C (p.Ter225Arg)	rs1057517433
NM_000390.4(CHM):c.116+1G>A	rs786204761
NM_000390.4(CHM):c.1A>G (p.Met1Val)	rs1057516265
NM_033380.3(COL4A5):c.687+5G>A	rs1556405930
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)	rs104886079

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.