ClinVar Miner

List of variants studied for central diabetes insipidus

Included ClinVar conditions (1):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000490.5(AVP):c.150C>A (p.Gly50=) rs371697622 0.00284
NM_000490.5(AVP):c.127C>G (p.Pro43Ala) rs539928673 0.00026
NM_000490.5(AVP):c.132C>T (p.Cys44=) rs572548414 0.00018
NM_000490.5(AVP):c.54C>T (p.Ser18=) rs769495733 0.00004
NM_000490.5(AVP):c.131G>T (p.Cys44Phe) rs1057516192
NM_000490.5(AVP):c.143G>T (p.Gly48Val) rs121964883
NM_000490.5(AVP):c.160G>C (p.Gly54Arg) rs121964888
NM_000490.5(AVP):c.161G>T (p.Gly54Val) rs121964887
NM_000490.5(AVP):c.200T>C (p.Val67Ala) rs28934878
NM_000490.5(AVP):c.218T>C (p.Leu73Pro)
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) rs2066119604
NM_000490.5(AVP):c.260C>T (p.Ser87Phe) rs121964890
NM_000490.5(AVP):c.262G>A (p.Gly88Ser) rs121964882
NM_000490.5(AVP):c.275G>A (p.Cys92Tyr) rs121964891
NM_000490.5(AVP):c.277G>T (p.Gly93Trp) rs121964885
NM_000490.5(AVP):c.287G>T (p.Gly96Val) rs121964886
NM_000490.5(AVP):c.290G>A (p.Arg97His)
NM_000490.5(AVP):c.294C>A (p.Cys98Ter) rs121964884
NM_000490.5(AVP):c.328T>A (p.Cys110Ser)
NM_000490.5(AVP):c.329G>A (p.Cys110Tyr) rs1057521601
NM_000490.5(AVP):c.337G>T (p.Glu113Ter) rs121964889
NM_000490.5(AVP):c.346T>G (p.Cys116Gly) rs74315383
NM_000490.5(AVP):c.347G>A (p.Cys116Tyr) rs2148570601
NM_000490.5(AVP):c.3del (p.Met1fs) rs2148571870
NM_000490.5(AVP):c.55G>A (p.Ala19Thr) rs387906511
NM_000490.5(AVP):c.56C>T (p.Ala19Val) rs387906512
NM_000490.5(AVP):c.61T>C (p.Tyr21His) rs121964893
NM_000490.5(AVP):c.64_66del (p.Phe22del) rs2148571804

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