List of variants reported as pathogenic for neurohypophyseal diabetes insipidus

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
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.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.294C>A (p.Cys98Ter)	rs121964884
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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