List of variants reported as likely benign for spermatogenic failure by Illumina Laboratory Services, Illumina

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_053054.4(CATSPER1):c.1467C>T (p.Cys489=)	rs75366838	0.02754
NM_031955.6(SPATA16):c.1577T>C (p.Met526Thr)	rs62622782	0.01931
NM_031955.6(SPATA16):c.1526C>T (p.Ala509Val)	rs115095786	0.01910
NM_053054.4(CATSPER1):c.1651C>T (p.Leu551=)	rs1783562	0.01483
NM_053054.4(CATSPER1):c.1057G>A (p.Val353Ile)	rs1191715	0.01351
NM_031955.6(SPATA16):c.149A>G (p.Asn50Ser)	rs16846624	0.01264
NM_001015878.2(AURKC):c.396G>A (p.Leu132=)	rs55710619	0.00991
NM_031955.6(SPATA16):c.1143A>G (p.Gln381=)	rs73041295	0.00685
NM_031955.6(SPATA16):c.-121G>A	rs189972919	0.00657
NM_001015878.2(AURKC):c.621G>A (p.Pro207=)	rs148940837	0.00593
NM_053054.4(CATSPER1):c.883C>T (p.Arg295Trp)	rs150803613	0.00082
NM_001177949.2(SYCP3):c.80T>C (p.Phe27Ser)	rs193241367	0.00012
NM_031955.6(SPATA16):c.1365G>T (p.Val455=)	rs199707743	0.00001
NM_001015878.2(AURKC):c.-80dup	rs140452971
NM_001015878.2(AURKC):c.-99dup	rs74179426
NM_020244.3(CHPT1):c.1177-215_1177-212del	rs370467855

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.