ClinVar Miner

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

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
AVPR2, 1-BP INS
AVPR2, 1-BP INS, 804G
NM_000054.6(AVPR2):c.1009C>T (p.Arg337Ter) rs104894753
NM_000054.6(AVPR2):c.102del (p.Leu35fs) rs1569545523
NM_000054.6(AVPR2):c.137T>A (p.Ile46Lys) rs104894759
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.310C>T (p.Arg104Cys) rs104894760
NM_000054.6(AVPR2):c.313T>G (p.Phe105Val) rs104894758
NM_000054.6(AVPR2):c.337C>T (p.Arg113Trp) rs28935496
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>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.541C>T (p.Arg181Cys) rs104894757
NM_000054.6(AVPR2):c.553G>T (p.Gly185Cys) rs104894748
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.738del (p.Arg247fs)
NM_000054.6(AVPR2):c.838dup (p.Tyr280fs) rs193922121
NM_000054.6(AVPR2):c.839A>G (p.Tyr280Cys) rs104894752
NM_000054.6(AVPR2):c.878G>A (p.Trp293Ter) rs1064797077
NM_000054.6(AVPR2):c.966del (p.Trp323fs) rs886040961

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