ClinVar Miner

List of variants reported as likely pathogenic for Nephrogenic diabetes insipidus

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Total variants: 15
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HGVS dbSNP
NM_000054.6(AVPR2):c.176T>C (p.Leu59Pro) rs193922112
NM_000054.6(AVPR2):c.290T>C (p.Leu97Pro) rs193922113
NM_000054.6(AVPR2):c.409C>G (p.Arg137Gly) rs104894761
NM_000054.6(AVPR2):c.424del (p.Cys142fs) rs193922114
NM_000054.6(AVPR2):c.472del (p.Arg158fs) rs193922115
NM_000054.6(AVPR2):c.554del (p.Gly185fs) rs193922116
NM_000054.6(AVPR2):c.673C>T (p.Gln225Ter) rs193922117
NM_000054.6(AVPR2):c.752_758del (p.Arg251fs) rs193922118
NM_000054.6(AVPR2):c.770del (p.Gly257fs) rs193922119
NM_000054.6(AVPR2):c.819_821del (p.Leu274del) rs193922120
NM_000054.6(AVPR2):c.853G>C (p.Ala285Pro) rs193922122
NM_000054.6(AVPR2):c.963C>A (p.Asn321Lys) rs193922123
NM_000486.5(AQP2):c.223T>G (p.Cys75Gly) rs193922494
NM_000486.5(AQP2):c.560G>A (p.Arg187His) rs193922495
NM_000486.5(AQP2):c.785del (p.Pro262fs) rs193922496

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