ClinVar Miner

List of variants studied for neurohypophyseal diabetes insipidus by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 6
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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.229GAG[1] (p.Glu78del) rs2066119604
NM_000490.5(AVP):c.55G>A (p.Ala19Thr) rs387906511

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