ClinVar Miner

List of variants in gene AVPR2 reported as pathogenic for not provided

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp) rs28935496 0.00001
NM_000054.7(AVPR2):c.409C>T (p.Arg137Cys) rs104894761 0.00001
NM_000054.7(AVPR2):c.410G>A (p.Arg137His) rs104894756 0.00001
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys) rs782806507 0.00001
NC_000023.10:g.(?_153166735)_(153170999_?)del
NC_000023.10:g.(?_153170600)_(153172182_?)del
NM_000054.7(AVPR2):c.1009C>T (p.Arg337Ter) rs104894753
NM_000054.7(AVPR2):c.130C>T (p.Leu44Phe)
NM_000054.7(AVPR2):c.212G>A (p.Trp71Ter)
NM_000054.7(AVPR2):c.238C>T (p.His80Tyr)
NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn) rs104894754
NM_000054.7(AVPR2):c.262G>A (p.Val88Met)
NM_000054.7(AVPR2):c.296G>A (p.Trp99Ter)
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.316C>T (p.Arg106Cys) rs2148514430
NM_000054.7(AVPR2):c.331_332del (p.Leu111fs)
NM_000054.7(AVPR2):c.348_349delinsAGG (p.Tyr117fs)
NM_000054.7(AVPR2):c.359_426dup (p.Arg143delinsTrpTrpAlaCysMetProProProThrTer) rs1557100580
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser) rs781950164
NM_000054.7(AVPR2):c.392T>C (p.Leu131Pro) rs878853079
NM_000054.7(AVPR2):c.430_442del (p.Pro144fs)
NM_000054.7(AVPR2):c.441dup (p.Tyr148fs) rs1603282111
NM_000054.7(AVPR2):c.472del (p.Arg158fs) rs193922115
NM_000054.7(AVPR2):c.500C>T (p.Ser167Leu) rs1557100701
NM_000054.7(AVPR2):c.513C>G (p.Ser171Arg) rs782601647
NM_000054.7(AVPR2):c.532_533insA (p.Phe178fs)
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000054.7(AVPR2):c.554del (p.Gly185fs) rs193922116
NM_000054.7(AVPR2):c.578G>A (p.Trp193Ter)
NM_000054.7(AVPR2):c.691G>T (p.Glu231Ter)
NM_000054.7(AVPR2):c.763del (p.Ser255fs)
NM_000054.7(AVPR2):c.821T>C (p.Leu274Pro)
NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys) rs104894752
NM_000054.7(AVPR2):c.851G>A (p.Trp284Ter)
NM_000054.7(AVPR2):c.871C>T (p.Gln291Ter) rs2148515004
NM_000054.7(AVPR2):c.879G>A (p.Trp293Ter) rs2064967549
NM_000054.7(AVPR2):c.887G>A (p.Trp296Ter)
NM_000054.7(AVPR2):c.888G>A (p.Trp296Ter)
NM_000054.7(AVPR2):c.910+1G>A rs2148515040
NM_000054.7(AVPR2):c.911-1G>A
NM_000054.7(AVPR2):c.911-2A>C
NM_000054.7(AVPR2):c.911-2A>G rs1569545567
NM_000054.7(AVPR2):c.935T>A (p.Leu312Ter)
NM_000054.7(AVPR2):c.965C>T (p.Pro322Leu)
NM_000054.7(AVPR2):c.981_993del (p.Phe328fs)

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