ClinVar Miner

List of variants in gene MMAB reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (1042):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) rs864309509
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) rs864309511
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter)
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.563T>G (p.Val188Gly) rs869320654
NM_052845.4(MMAB):c.567_569CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370
NM_052845.4(MMAB):c.573_577del (p.Ala192fs) rs1555274497
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708
NM_052845.4(MMAB):c.585-2A>C rs1555274254
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618

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.