ClinVar Miner

List of variants in gene AVPR2 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000054.6(AVPR2):c.176T>C (p.Leu59Pro) rs193922112
NM_000054.6(AVPR2):c.290T>C (p.Leu97Pro) rs193922113
NM_000054.6(AVPR2):c.335G>T (p.Cys112Phe) rs1057518723
NM_000054.6(AVPR2):c.409C>G (p.Arg137Gly) rs104894761
NM_000054.6(AVPR2):c.424del (p.Cys142fs) rs193922114
NM_000054.6(AVPR2):c.472del (p.Arg158fs) rs193922115
NM_000054.6(AVPR2):c.554del (p.Gly185fs) rs193922116
NM_000054.6(AVPR2):c.673C>T (p.Gln225Ter) rs193922117
NM_000054.6(AVPR2):c.752_758del (p.Arg251fs) rs193922118
NM_000054.6(AVPR2):c.770del (p.Gly257fs) rs193922119
NM_000054.6(AVPR2):c.816G>A (p.Met272Ile)
NM_000054.6(AVPR2):c.819_821del (p.Leu274del) rs193922120
NM_000054.6(AVPR2):c.853G>C (p.Ala285Pro) rs193922122
NM_000054.6(AVPR2):c.963C>A (p.Asn321Lys) rs193922123

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.