List of variants reported as likely pathogenic for hereditary epidermal appendage anomaly by Natera, Inc.

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: 37

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NR_003051.4(RMRP):n.240C>T	rs749667892	0.00015
NC_000009.12:g.35658031_35658040dup	rs1554651507	0.00007
NM_001283009.2(RTEL1):c.3110-2A>T	rs377461417	0.00006
NR_003051.3(RMRP):n.-25_-3dup	rs1554651413	0.00004
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	rs398123018	0.00003
NM_001283009.2(RTEL1):c.396-26C>T	rs80224512	0.00003
NM_153717.3(EVC):c.2782+1G>T	rs1007534611	0.00002
NR_003051.3(RMRP):n.-24_-12dupACTACTCTGTGAA	rs781730798	0.00002
NR_003051.3(RMRP):n.-16_-4dup	rs1554651422	0.00001
NR_003051.3(RMRP):n.-20_-8dup	rs1823640657	0.00001
NR_003051.3(RMRP):n.-22_-4dup	rs1554651427	0.00001
NR_003051.4(RMRP):n.-20_-1dup	rs1554651403	0.00001
NR_003051.4(RMRP):n.-21_-13dup	rs1563908167	0.00001
NR_003051.4(RMRP):n.195G>A	rs761398394	0.00001
NC_000009.12:g.35658029_35658041dup	rs751921616
NC_000009.12:g.35658032_35658044dup	rs1554651508
NM_001283009.2(RTEL1):c.1191+1G>C	rs2090461817
NM_001283009.2(RTEL1):c.1236_1266+47del	rs1568703403
NM_001283009.2(RTEL1):c.2265+1G>T	rs2145431062
NM_001283009.2(RTEL1):c.3110-2A>C	rs377461417
NM_001283009.2(RTEL1):c.901_919+72del	rs1569090870
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)	rs2020255486
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)	rs755381180
NM_153717.3(EVC):c.939+1G>A	rs1553873138
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC	rs727502776
NR_003051.3(RMRP):n.-20_-10dup	rs1554651486
NR_003051.3(RMRP):n.-20_-12dup	rs1554651503
NR_003051.3(RMRP):n.-20_-13dup	rs1554651512
NR_003051.3(RMRP):n.-20_-3dup	rs1554651418
NR_003051.3(RMRP):n.-20_-7dup14	rs1823639713
NR_003051.3(RMRP):n.-21_-4dup	rs1563907881
NR_003051.3(RMRP):n.-23_-13dup	rs1554651513
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC	rs727502776
NR_003051.3(RMRP):n.-25_-6dup	rs1554651445
NR_003051.3(RMRP):n.-9_1dup	rs752934195
NR_003051.4(RMRP):n.213C>G	rs192060920
NR_003051.4(RMRP):n.97_98dup	rs1340624774

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.