List of variants reported as likely pathogenic for autosomal recessive disease by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00347
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter)	rs138593211	0.00020
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	rs145226920	0.00016
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	rs111033309	0.00009
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)	rs138603088	0.00002
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)	rs765825423	0.00001
NM_001038603.3(MARVELD2):c.1183-1G>A	rs200781822	0.00001
NM_018249.6(CDK5RAP2):c.4114C>T (p.Arg1372Ter)	rs746967357	0.00001
NM_024596.5(MCPH1):c.2214+2T>C	rs575037500	0.00001
NM_000553.6(WRN):c.561A>G (p.Lys187=)	rs775802030
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	rs397516633
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)	rs727503493
NM_022089.4(ATP13A2):c.2135_2136del (p.Val712fs)	rs2076942520
NM_022089.4(ATP13A2):c.558-1G>T	rs2077392348
NM_022464.5(SIL1):c.645+2T>C
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr)	rs1457494794
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)

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.