ClinVar Miner

List of variants in gene AQP2 studied for diabetes insipidus

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000486.6(AQP2):c.360+3G>A rs3741559 0.16237
NM_000486.6(AQP2):c.342G>A (p.Gly114=) rs35400945 0.01305
NM_000486.6(AQP2):c.345C>T (p.Asp115=) rs60629501 0.01171
NM_000486.6(AQP2):c.-59G>A rs62620006 0.00748
NM_000486.6(AQP2):c.39G>A (p.Val13=) rs61733029 0.00540
NM_000486.6(AQP2):c.204C>T (p.Asn68=) rs57915981 0.00332
NM_000486.6(AQP2):c.141G>A (p.Ala47=) rs140262864 0.00019
NM_000486.6(AQP2):c.-60C>T rs563444539 0.00016
NM_000486.6(AQP2):c.-16C>T rs200777769 0.00012
NM_000486.6(AQP2):c.211G>A (p.Val71Met) rs149659001 0.00006
NM_000486.6(AQP2):c.70G>A (p.Val24Ile) rs200706192 0.00006
NM_000486.6(AQP2):c.-65G>A rs879038380 0.00004
NM_000486.6(AQP2):c.189C>T (p.Ser63=) rs200279968 0.00004
NM_000486.6(AQP2):c.162C>G (p.Thr54=) rs143497314 0.00003
NM_000486.6(AQP2):c.258C>T (p.Ala86=) rs780540045 0.00003
NM_000486.6(AQP2):c.277C>T (p.Gln93Ter) rs770810694 0.00003
NM_000486.6(AQP2):c.-93G>A rs138200476 0.00002
NM_000486.6(AQP2):c.170A>C (p.Gln57Pro) rs28931580 0.00002
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00002
NM_000486.6(AQP2):c.360+1G>A rs745861885 0.00002
NM_000486.6(AQP2):c.246C>T (p.Ser82=) rs764185466 0.00001
NM_000486.6(AQP2):c.297C>T (p.Ala99=) rs959834754 0.00001
NM_000486.6(AQP2):c.299G>T (p.Gly100Val) rs104894338 0.00001
NM_000486.6(AQP2):c.324G>A (p.Thr108=) rs143940351 0.00001
NM_000486.6(AQP2):c.32G>A (p.Arg11Lys) rs148085137 0.00001
NM_000486.6(AQP2):c.64C>G (p.Leu22Val) rs104894336 0.00001
NM_000486.6(AQP2):c.-75G>A rs149553671
NM_000486.6(AQP2):c.-75G>T rs149553671
NM_000486.6(AQP2):c.127C>T (p.Gln43Ter) rs1481158831
NM_000486.6(AQP2):c.127_128del (p.Gln43fs) rs1337669269
NM_000486.6(AQP2):c.135C>T (p.Ala45=) rs1947324370
NM_000486.6(AQP2):c.140C>T (p.Ala47Val) rs995684800
NM_000486.6(AQP2):c.155T>C (p.Ile52Thr) rs2137144293
NM_000486.6(AQP2):c.203A>G (p.Asn68Ser) rs104894331
NM_000486.6(AQP2):c.223T>G (p.Cys75Gly) rs193922494
NM_000486.6(AQP2):c.360+5G>T rs775237038
NM_000486.6(AQP2):c.3G>T (p.Met1Ile) rs1288385043
NM_000486.6(AQP2):c.85G>A (p.Gly29Ser)
NM_000486.6(AQP2):c.97_119del (p.Asn33fs) rs772201159

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