ClinVar Miner

List of variants in gene AVP studied for Neurohypophyseal diabetes insipidus

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000490.5(AVP):c.150C>A (p.Gly50=) rs371697622 0.00257
NM_000490.5(AVP):c.127C>G (p.Pro43Ala) rs539928673 0.00030
NM_000490.5(AVP):c.361C>T (p.His121Tyr) rs568253217 0.00030
NM_000490.5(AVP):c.132C>T (p.Cys44=) rs572548414 0.00018
NM_000490.5(AVP):c.322+4C>A rs779482841 0.00015
NM_000490.5(AVP):c.422C>T (p.Ala141Val) rs566930108 0.00015
NM_000490.5(AVP):c.337G>A (p.Glu113Lys) rs121964889 0.00007
NM_000490.5(AVP):c.335C>T (p.Thr112Ile) rs1015300508 0.00006
NM_000490.5(AVP):c.54C>T (p.Ser18=) rs769495733 0.00005
NM_000490.5(AVP):c.118C>G (p.Gln40Glu) rs761625433 0.00001
NM_000490.5(AVP):c.105C>G (p.Asp35Glu) rs147447861
NM_000490.5(AVP):c.113T>A (p.Leu38Gln)
NM_000490.5(AVP):c.115A>G (p.Arg39Gly)
NM_000490.5(AVP):c.120+12T>G
NM_000490.5(AVP):c.120+1G>A
NM_000490.5(AVP):c.121-6C>G
NM_000490.5(AVP):c.122G>A (p.Cys41Tyr)
NM_000490.5(AVP):c.128C>A (p.Pro43His)
NM_000490.5(AVP):c.128C>T (p.Pro43Leu)
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.183C>A (p.Asp61Glu)
NM_000490.5(AVP):c.199G>C (p.Val67Leu)
NM_000490.5(AVP):c.200T>C (p.Val67Ala) rs28934878
NM_000490.5(AVP):c.218T>C (p.Leu73Pro) rs2517100396
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) rs2066119604
NM_000490.5(AVP):c.22G>A (p.Ala8Thr)
NM_000490.5(AVP):c.259_267del (p.Ser87_Gln89del)
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.262G>T (p.Gly88Cys) 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>A (p.Gly96Asp)
NM_000490.5(AVP):c.287G>T (p.Gly96Val) rs121964886
NM_000490.5(AVP):c.290G>A (p.Arg97His) rs2517100221
NM_000490.5(AVP):c.294C>A (p.Cys98Ter) rs121964884
NM_000490.5(AVP):c.318C>G (p.Asn106Lys)
NM_000490.5(AVP):c.322+1G>A
NM_000490.5(AVP):c.328T>A (p.Cys110Ser) rs2517099578
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.349C>T (p.Arg117Cys)
NM_000490.5(AVP):c.356G>C (p.Gly119Ala)
NM_000490.5(AVP):c.359T>C (p.Phe120Ser)
NM_000490.5(AVP):c.373C>A (p.Arg125Ser)
NM_000490.5(AVP):c.3del (p.Met1fs) rs2148571870
NM_000490.5(AVP):c.409G>T (p.Gly137Trp)
NM_000490.5(AVP):c.421G>A (p.Ala141Thr)
NM_000490.5(AVP):c.468C>A (p.Phe156Leu)
NM_000490.5(AVP):c.468C>G (p.Phe156Leu)
NM_000490.5(AVP):c.476C>A (p.Ala159Asp)
NM_000490.5(AVP):c.485A>G (p.Asp162Gly)
NM_000490.5(AVP):c.49T>C (p.Ser17Pro)
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
NM_000490.5(AVP):c.67C>T (p.Gln23Ter)
NM_000490.5(AVP):c.77C>T (p.Pro26Leu)
NM_000490.5(AVP):c.9C>A (p.Asp3Glu)

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