ClinVar Miner

List of variants in gene AVP reported as uncertain significance for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000490.5(AVP):c.230A>T (p.Glu77Val) rs193002694 0.00413
NM_000490.5(AVP):c.475G>A (p.Ala159Thr) rs760345436 0.00080
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.323A>T (p.Glu108Val) rs1064796944 0.00001
NM_000490.5(AVP):c.458C>T (p.Pro153Leu) rs2517099294 0.00001
NM_000490.5(AVP):c.105C>G (p.Asp35Glu) rs147447861
NM_000490.5(AVP):c.140G>A (p.Gly47Glu) rs1350221235
NM_000490.5(AVP):c.170T>A (p.Ile57Asn)
NM_000490.5(AVP):c.175T>C (p.Cys59Arg)
NM_000490.5(AVP):c.178G>A (p.Ala60Thr)
NM_000490.5(AVP):c.237C>G (p.Asn79Lys)
NM_000490.5(AVP):c.262G>T (p.Gly88Cys) rs121964882
NM_000490.5(AVP):c.265C>G (p.Gln89Glu) rs751535373
NM_000490.5(AVP):c.272C>T (p.Ala91Val)
NM_000490.5(AVP):c.275G>T (p.Cys92Phe) rs121964891
NM_000490.5(AVP):c.287G>T (p.Gly96Val) rs121964886
NM_000490.5(AVP):c.321C>G (p.Asp107Glu) rs772747008
NM_000490.5(AVP):c.329G>A (p.Cys110Tyr) rs1057521601
NM_000490.5(AVP):c.379A>G (p.Ser127Gly) rs2517099468
NM_000490.5(AVP):c.434G>C (p.Arg145Pro) rs936650522
NM_000490.5(AVP):c.457C>T (p.Pro153Ser) rs1384062604
NM_000490.5(AVP):c.64_66del (p.Phe22del) rs2148571804
NM_000490.5(AVP):c.92G>A (p.Arg31Lys) rs752961032

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