ClinVar Miner

List of variants in gene AQP2 reported as benign for diabetes insipidus

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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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

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