ClinVar Miner

List of variants studied for Nephrogenic diabetes insipidus by Natera, Inc.

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000486.6(AQP2):c.501T>C (p.Ser167=) rs426496 0.70780
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.39G>A (p.Val13=) rs61733029 0.00540
NM_000486.6(AQP2):c.204C>T (p.Asn68=) rs57915981 0.00332
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.141G>A (p.Ala47=) rs140262864 0.00019
NM_000486.6(AQP2):c.70G>A (p.Val24Ile) rs200706192 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.189C>T (p.Ser63=) rs200279968 0.00004
NM_000486.6(AQP2):c.162C>G (p.Thr54=) rs143497314 0.00003
NM_000486.6(AQP2):c.277C>T (p.Gln93Ter) rs770810694 0.00003
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00002
NM_000486.6(AQP2):c.447C>T (p.Thr149=) rs369985708 0.00002
NM_000486.6(AQP2):c.297C>T (p.Ala99=) rs959834754 0.00001
NM_000486.6(AQP2):c.324G>A (p.Thr108=) rs143940351 0.00001
NM_000486.6(AQP2):c.459C>T (p.Arg153=) rs201617819 0.00001
NM_000486.6(AQP2):c.135C>T (p.Ala45=) rs1947324370
NM_000486.6(AQP2):c.450T>A (p.Asp150Glu) rs770932012
NM_000486.6(AQP2):c.607-3del rs754520891
NM_000486.6(AQP2):c.768G>C (p.Ser256=) rs771955610

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