ClinVar Miner

List of variants in gene AVPR2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP
AVPR2, 1-BP DEL, 733G
AVPR2, 1-BP INS
AVPR2, 1-BP INS, 804G
NM_000054.6(AVPR2):c.*119G>A rs782425427
NM_000054.6(AVPR2):c.*129C>T rs782022257
NM_000054.6(AVPR2):c.*136T>G rs782141948
NM_000054.6(AVPR2):c.*204C>T rs184401408
NM_000054.6(AVPR2):c.*257G>A rs73627263
NM_000054.6(AVPR2):c.*282G>A rs782404692
NM_000054.6(AVPR2):c.-48G>C rs782204150
NM_000054.6(AVPR2):c.1009C>T (p.Arg337Ter) rs104894753
NM_000054.6(AVPR2):c.102del (p.Leu35fs) rs1569545523
NM_000054.6(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208
NM_000054.6(AVPR2):c.1113G>A (p.Ser371=) rs5203
NM_000054.6(AVPR2):c.125C>T (p.Ala42Val) rs5198
NM_000054.6(AVPR2):c.12G>A (p.Ala4=) rs61748993
NM_000054.6(AVPR2):c.137T>A (p.Ile46Lys) rs104894759
NM_000054.6(AVPR2):c.174G>A (p.Val58=) rs201810684
NM_000054.6(AVPR2):c.176T>C (p.Leu59Pro) rs193922112
NM_000054.6(AVPR2):c.189T>C (p.Ala63=) rs140156037
NM_000054.6(AVPR2):c.19A>T (p.Thr7Ser) rs5196
NM_000054.6(AVPR2):c.213G>A (p.Trp71Ter) rs104894751
NM_000054.6(AVPR2):c.24del (p.Ala9fs) rs1557100304
NM_000054.6(AVPR2):c.253G>A (p.Asp85Asn) rs104894754
NM_000054.6(AVPR2):c.26-6T>G rs56689668
NM_000054.6(AVPR2):c.290T>C (p.Leu97Pro) rs193922113
NM_000054.6(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.6(AVPR2):c.313T>G (p.Phe105Val) rs104894758
NM_000054.6(AVPR2):c.335G>T (p.Cys112Phe) rs1057518723
NM_000054.6(AVPR2):c.337C>T (p.Arg113Trp) rs28935496
NM_000054.6(AVPR2):c.35G>A (p.Gly12Glu) rs2071126
NM_000054.6(AVPR2):c.388A>T (p.Ile130Phe) rs796052096
NM_000054.6(AVPR2):c.395C>A (p.Ala132Asp) rs104894747
NM_000054.6(AVPR2):c.409C>G (p.Arg137Gly) rs104894761
NM_000054.6(AVPR2):c.409C>T (p.Arg137Cys) rs104894761
NM_000054.6(AVPR2):c.410G>A (p.Arg137His) rs104894756
NM_000054.6(AVPR2):c.410G>T (p.Arg137Leu) rs104894756
NM_000054.6(AVPR2):c.424del (p.Cys142fs) rs193922114
NM_000054.6(AVPR2):c.440C>T (p.Ala147Val) rs5200
NM_000054.6(AVPR2):c.472del (p.Arg158fs) rs193922115
NM_000054.6(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000054.6(AVPR2):c.553G>T (p.Gly185Cys) rs104894748
NM_000054.6(AVPR2):c.554del (p.Gly185fs) rs193922116
NM_000054.6(AVPR2):c.602G>A (p.Gly201Asp) rs104894755
NM_000054.6(AVPR2):c.607C>T (p.Arg203Cys) rs104894750
NM_000054.6(AVPR2):c.614A>G (p.Tyr205Cys) rs104894749
NM_000054.6(AVPR2):c.643G>A (p.Val215Met) rs112109182
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.754C>T (p.Arg252Trp) rs61733407
NM_000054.6(AVPR2):c.770del (p.Gly257fs) rs193922119
NM_000054.6(AVPR2):c.797T>C (p.Val266Ala) rs111643041
NM_000054.6(AVPR2):c.819_821del (p.Leu274del) rs193922120
NM_000054.6(AVPR2):c.838dup (p.Tyr280fs) rs193922121
NM_000054.6(AVPR2):c.839A>G (p.Tyr280Cys) rs104894752
NM_000054.6(AVPR2):c.853G>C (p.Ala285Pro) rs193922122
NM_000054.6(AVPR2):c.878G>A (p.Trp293Ter) rs1064797077
NM_000054.6(AVPR2):c.886T>C (p.Trp296Arg) rs886041110
NM_000054.6(AVPR2):c.927A>G (p.Leu309=) rs5201
NM_000054.6(AVPR2):c.963C>A (p.Asn321Lys) rs193922123
NM_000054.6(AVPR2):c.966del (p.Trp323fs) rs886040961
NM_000054.6(AVPR2):c.993C>T (p.Ser331=) rs5202

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.