ClinVar Miner

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

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_053054.4(CATSPER1):c.1954G>A (p.Val652Ile) rs3814747 0.95986
NM_001015878.2(AURKC):c.-145G>C rs11084490 0.86511
NM_001015878.2(AURKC):c.-128C>T rs58264281 0.75512
NM_053054.4(CATSPER1):c.1222C>A (p.Arg408=) rs2845570 0.44072
NM_031955.6(SPATA16):c.397A>G (p.Met133Val) rs1515442 0.39106
NM_053054.4(CATSPER1):c.-92T>C rs947847 0.34569
NM_053054.4(CATSPER1):c.397G>A (p.Gly133Ser) rs1203998 0.34448
NM_053054.4(CATSPER1):c.54C>T (p.Asn18=) rs1893316 0.20019
NM_031955.6(SPATA16):c.675C>T (p.Ser225=) rs508508 0.17696
NM_053054.4(CATSPER1):c.2070C>T (p.Ala690=) rs3829937 0.17199
NM_031955.6(SPATA16):c.232G>A (p.Glu78Lys) rs1515441 0.11912
NM_031955.6(SPATA16):c.440G>A (p.Gly147Glu) rs16846616 0.09632
NM_031955.6(SPATA16):c.720G>A (p.Arg240=) rs55724801 0.02430
NM_001177949.2(SYCP3):c.-122T>A rs17031944 0.02365
NM_031955.6(SPATA16):c.130T>A (p.Ser44Thr) rs146572379 0.02122
NM_020244.3(CHPT1):c.1177-179C>T rs17723833 0.01983
NM_020244.3(CHPT1):c.1177-157T>C rs115013475 0.01299
NM_001177949.2(SYCP3):c.435A>G (p.Glu145=) rs78591432 0.01236
NM_053054.4(CATSPER1):c.730G>A (p.Gly244Arg) rs79062509 0.00566
NM_001177949.2(SYCP3):c.-53C>G rs137993065 0.00185
NM_001015878.2(AURKC):c.235A>G (p.Ile79Val) rs61736320 0.00180
NM_001177949.2(SYCP3):c.666A>G (p.Gln222=) rs190337934 0.00043
NM_001177949.2(SYCP3):c.59A>G (p.Gln20Arg) rs143228358 0.00020
NM_001015878.2(AURKC):c.*38G>A rs35582299
NM_001177949.2(SYCP3):c.-106A>G rs143456701
NM_001177949.2(SYCP3):c.454-13_454-9del rs145003954

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.