ClinVar Miner

List of variants in gene AQP2, AQP5 studied for not provided

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Gene type:
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Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_000486.6(AQP2):c.*1562T>C rs296766 0.91514
NM_000486.6(AQP2):c.*2495A>G rs296768 0.91375
NM_000486.6(AQP2):c.607-92A>G rs410837 0.88050
NM_000486.6(AQP2):c.607-253T>C rs439779 0.70786
NM_000486.6(AQP2):c.501T>C (p.Ser167=) rs426496 0.70780
NM_000486.6(AQP2):c.607-39C>G rs403201 0.70732
NM_000486.6(AQP2):c.606+181C>T rs402813 0.68226
NM_000486.6(AQP2):c.*374C>T rs467323 0.53117
NM_000486.6(AQP2):c.*1684T>C rs10875989 0.33771
NM_000486.6(AQP2):c.*2725A>C rs1077520 0.21838
NM_000486.6(AQP2):c.*3002G>C rs2878771 0.17599
NM_000486.6(AQP2):c.360+327G>A rs3782322 0.13363
NM_000486.6(AQP2):c.*3168T>C rs2878772 0.13262
NM_000486.6(AQP2):c.526-54T>C rs12372344 0.13174
NM_000486.6(AQP2):c.607-221A>G rs7299924 0.13166
NM_000486.6(AQP2):c.*1757A>G rs74091162 0.12242
NM_000486.6(AQP2):c.*1228T>G rs77904078 0.03005
NM_000486.6(AQP2):c.*2250C>T rs296767 0.02919
NM_000486.6(AQP2):c.702G>A (p.Leu234=) rs143104356 0.00119
NM_000486.6(AQP2):c.471G>A (p.Pro157=) rs138000704 0.00030
NM_000486.6(AQP2):c.579C>T (p.Val193=) rs201812544 0.00029
NM_000486.6(AQP2):c.378G>A (p.Thr126=) rs144891220 0.00026
NM_000486.6(AQP2):c.659A>C (p.Asn220Thr) rs771414160 0.00009
NM_000486.6(AQP2):c.439G>A (p.Ala147Thr) rs104894334 0.00008
NM_000486.6(AQP2):c.433A>G (p.Ile145Val) rs373700329 0.00007
NM_000486.6(AQP2):c.726G>A (p.Pro242=) rs751967196 0.00006
NM_000486.6(AQP2):c.763C>T (p.Gln255Ter) rs370879515 0.00006
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys) rs104894328 0.00005
NM_000486.6(AQP2):c.625C>G (p.Leu209Val) rs1555165381 0.00005
NM_000486.6(AQP2):c.387G>A (p.Gln129=) rs766576657 0.00004
NM_000486.6(AQP2):c.785C>T (p.Pro262Leu) rs104894339 0.00004
NM_000486.6(AQP2):c.607-12G>T rs761776136 0.00003
NM_000486.6(AQP2):c.735T>C (p.Asp245=) rs201195539 0.00003
NM_000486.6(AQP2):c.374C>T (p.Thr125Met) rs104894333 0.00002
NM_000486.6(AQP2):c.423G>A (p.Leu141=) rs151219353 0.00002
NM_000486.6(AQP2):c.438C>T (p.Phe146=) rs143886391 0.00002
NM_000486.6(AQP2):c.447C>T (p.Thr149=) rs369985708 0.00002
NM_000486.6(AQP2):c.582C>T (p.Val194=) rs765082621 0.00002
NM_000486.6(AQP2):c.363C>G (p.Leu121=) rs775525166 0.00001
NM_000486.6(AQP2):c.375G>A (p.Thr125=) rs772192893 0.00001
NM_000486.6(AQP2):c.377C>T (p.Thr126Met) rs104894330 0.00001
NM_000486.6(AQP2):c.393G>A (p.Val131=) rs371158770 0.00001
NM_000486.6(AQP2):c.459C>T (p.Arg153=) rs201617819 0.00001
NM_000486.6(AQP2):c.519C>G (p.Leu173=) rs754711861 0.00001
NM_000486.6(AQP2):c.537C>T (p.Thr179=) rs199999215 0.00001
NM_000486.6(AQP2):c.558C>A (p.Ala186=) rs1217922631 0.00001
NM_000486.6(AQP2):c.560G>A (p.Arg187His) rs193922495 0.00001
NM_000486.6(AQP2):c.576T>G (p.Ala192=) rs765874888 0.00001
NM_000486.6(AQP2):c.607-4C>T rs753958063 0.00001
NM_000486.6(AQP2):c.630G>C (p.Val210=) rs1947360169 0.00001
NM_000486.6(AQP2):c.640C>T (p.Leu214=) rs758713528 0.00001
NM_000486.6(AQP2):c.786G>T (p.Pro262=) rs765447609 0.00001
NC_000012.11:g.(?_50348473)_(50357918_?)del
NM_000486.6(AQP2):c.*121C>G rs75528468
NM_000486.6(AQP2):c.*1730del rs141050726
NM_000486.6(AQP2):c.361-10C>T rs1414209809
NM_000486.6(AQP2):c.361-19G>A
NM_000486.6(AQP2):c.361-19G>T
NM_000486.6(AQP2):c.361-20C>A
NM_000486.6(AQP2):c.361-20C>T
NM_000486.6(AQP2):c.361-250T>G rs61926092
NM_000486.6(AQP2):c.361-2A>G
NM_000486.6(AQP2):c.361-8G>C rs745686376
NM_000486.6(AQP2):c.361-9T>C rs1291468326
NM_000486.6(AQP2):c.369del (p.Asn123fs) rs1565636541
NM_000486.6(AQP2):c.384C>T (p.Gly128=)
NM_000486.6(AQP2):c.390G>A (p.Ala130=) rs139064235
NM_000486.6(AQP2):c.390G>C (p.Ala130=) rs139064235
NM_000486.6(AQP2):c.398_399del (p.Val133fs)
NM_000486.6(AQP2):c.402G>A (p.Glu134=)
NM_000486.6(AQP2):c.409C>T (p.Leu137=) rs1311153978
NM_000486.6(AQP2):c.414A>G (p.Thr138=)
NM_000486.6(AQP2):c.418C>T (p.Gln140Ter) rs1947349400
NM_000486.6(AQP2):c.423G>T (p.Leu141=) rs151219353
NM_000486.6(AQP2):c.429C>A (p.Leu143=)
NM_000486.6(AQP2):c.429C>T (p.Leu143=)
NM_000486.6(AQP2):c.444C>T (p.Ser148=) rs1947349666
NM_000486.6(AQP2):c.446C>A (p.Thr149Asn)
NM_000486.6(AQP2):c.450T>A (p.Asp150Glu) rs770932012
NM_000486.6(AQP2):c.456C>T (p.Arg152=) rs1947349916
NM_000486.6(AQP2):c.460G>T (p.Gly154Ter) rs369214822
NM_000486.6(AQP2):c.468C>T (p.Asn156=)
NM_000486.6(AQP2):c.471G>C (p.Pro157=)
NM_000486.6(AQP2):c.471G>T (p.Pro157=) rs138000704
NM_000486.6(AQP2):c.480T>C (p.Pro160=) rs2137147540
NM_000486.6(AQP2):c.481G>A (p.Ala161Thr)
NM_000486.6(AQP2):c.486C>G (p.Leu162=)
NM_000486.6(AQP2):c.491T>C (p.Ile164Thr)
NM_000486.6(AQP2):c.500dup (p.Val168fs)
NM_000486.6(AQP2):c.501= (p.Ser167=)
NM_000486.6(AQP2):c.501_502inv (p.Val168Met)
NM_000486.6(AQP2):c.510G>C (p.Leu170=) rs1314644595
NM_000486.6(AQP2):c.513C>G (p.Gly171=)
NM_000486.6(AQP2):c.520C>G (p.Leu174Val)
NM_000486.6(AQP2):c.525+16G>A
NM_000486.6(AQP2):c.525+7C>T
NM_000486.6(AQP2):c.525+9T>C rs2137147629
NM_000486.6(AQP2):c.526-12C>G
NM_000486.6(AQP2):c.526-13C>T
NM_000486.6(AQP2):c.526-14T>G
NM_000486.6(AQP2):c.526-15C>T
NM_000486.6(AQP2):c.526-16C>G
NM_000486.6(AQP2):c.526-2A>G
NM_000486.6(AQP2):c.526-7A>G rs2137147941
NM_000486.6(AQP2):c.538G>A (p.Gly180Ser)
NM_000486.6(AQP2):c.552T>C (p.Asn184=)
NM_000486.6(AQP2):c.559C>G (p.Arg187Gly) rs104894328
NM_000486.6(AQP2):c.561C>A (p.Arg187=) rs1947353649
NM_000486.6(AQP2):c.564C>T (p.Ser188=)
NM_000486.6(AQP2):c.567G>T (p.Leu189=)
NM_000486.6(AQP2):c.579C>G (p.Val193=)
NM_000486.6(AQP2):c.582C>A (p.Val194=) rs765082621
NM_000486.6(AQP2):c.585T>C (p.Thr195=)
NM_000486.6(AQP2):c.606+10G>A rs2137148098
NM_000486.6(AQP2):c.606+14C>T rs138177134
NM_000486.6(AQP2):c.606+16C>T
NM_000486.6(AQP2):c.606+19T>G
NM_000486.6(AQP2):c.606+1G>A
NM_000486.6(AQP2):c.606+7G>A
NM_000486.6(AQP2):c.606+8C>G rs2137148093
NM_000486.6(AQP2):c.606+9T>C rs2137148096
NM_000486.6(AQP2):c.607-13C>T
NM_000486.6(AQP2):c.607-19C>T
NM_000486.6(AQP2):c.607-1G>A
NM_000486.6(AQP2):c.607-20C>T
NM_000486.6(AQP2):c.607-2A>G
NM_000486.6(AQP2):c.607-3del rs754520891
NM_000486.6(AQP2):c.607-59C>A rs371777
NM_000486.6(AQP2):c.607-6C>T
NM_000486.6(AQP2):c.607-7C>T
NM_000486.6(AQP2):c.608TCT[1] (p.Phe204del)
NM_000486.6(AQP2):c.613T>C (p.Trp205Arg) rs1565637077
NM_000486.6(AQP2):c.618C>T (p.Ile206=) rs2137148756
NM_000486.6(AQP2):c.624C>A (p.Pro208=)
NM_000486.6(AQP2):c.630G>A (p.Val210=)
NM_000486.6(AQP2):c.633C>T (p.Gly211=) rs1411922470
NM_000486.6(AQP2):c.643G>C (p.Gly215Arg)
NM_000486.6(AQP2):c.647C>T (p.Ser216Phe) rs199422215
NM_000486.6(AQP2):c.651C>T (p.Leu217=)
NM_000486.6(AQP2):c.655T>C (p.Tyr219His)
NM_000486.6(AQP2):c.656A>G (p.Tyr219Cys)
NM_000486.6(AQP2):c.660C>T (p.Asn220=)
NM_000486.6(AQP2):c.666G>C (p.Val222=)
NM_000486.6(AQP2):c.674C>T (p.Pro225Leu)
NM_000486.6(AQP2):c.675G>A (p.Pro225=)
NM_000486.6(AQP2):c.681C>A (p.Ala227=)
NM_000486.6(AQP2):c.690G>A (p.Leu230=)
NM_000486.6(AQP2):c.690G>C (p.Leu230=)
NM_000486.6(AQP2):c.692C>A (p.Ser231Ter)
NM_000486.6(AQP2):c.693G>A (p.Ser231=)
NM_000486.6(AQP2):c.699C>T (p.Arg233=)
NM_000486.6(AQP2):c.705A>G (p.Ala235=) rs1565637173
NM_000486.6(AQP2):c.707_720dup (p.Glu241delinsCysTer)
NM_000486.6(AQP2):c.717C>G (p.Gly239=) rs2137148937
NM_000486.6(AQP2):c.726G>C (p.Pro242=) rs751967196
NM_000486.6(AQP2):c.729C>T (p.Asp243=) rs201761847
NM_000486.6(AQP2):c.732C>G (p.Thr244=)
NM_000486.6(AQP2):c.732C>T (p.Thr244=) rs1200428217
NM_000486.6(AQP2):c.741G>A (p.Glu247=)
NM_000486.6(AQP2):c.744G>A (p.Glu248=)
NM_000486.6(AQP2):c.747C>T (p.Arg249=)
NM_000486.6(AQP2):c.750G>A (p.Glu250=) rs1592816980
NM_000486.6(AQP2):c.767C>A (p.Ser256Ter) rs1947361964
NM_000486.6(AQP2):c.768G>A (p.Ser256=)
NM_000486.6(AQP2):c.768G>C (p.Ser256=) rs771955610
NM_000486.6(AQP2):c.770T>C (p.Val257Ala)
NM_000486.6(AQP2):c.771G>A (p.Val257=)
NM_000486.6(AQP2):c.775C>T (p.Leu259=) rs1763241411
NM_000486.6(AQP2):c.778C>A (p.His260Asn)
NM_000486.6(AQP2):c.782C>A (p.Ser261Ter)
NM_000486.6(AQP2):c.786G>A (p.Pro262=) rs765447609
NM_000486.6(AQP2):c.792C>G (p.Ser264Arg)
NM_000486.6(AQP2):c.792C>T (p.Ser264=)
NM_000486.6(AQP2):c.801G>C (p.Arg267=) rs2137149074
NM_000486.6(AQP2):c.805A>G (p.Thr269Ala)

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