ClinVar Miner

List of variants in gene UPK3A reported as uncertain significance for Renal hypodysplasia/aplasia 1

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Total variants: 19
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NM_006953.4(UPK3A):c.*107T>C rs558490093
NM_006953.4(UPK3A):c.*42C>T rs746035232
NM_006953.4(UPK3A):c.-26C>G rs768663033
NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn) rs145186308
NM_006953.4(UPK3A):c.209-11C>T rs201838809
NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn) rs765876533
NM_006953.4(UPK3A):c.359G>A (p.Gly120Glu)
NM_006953.4(UPK3A):c.361G>T (p.Asp121Tyr)
NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys) rs147406393
NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg) rs139626522
NM_006953.4(UPK3A):c.450C>A (p.Gly150=)
NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu) rs200941092
NM_006953.4(UPK3A):c.480G>A (p.Thr160=)
NM_006953.4(UPK3A):c.560G>A (p.Arg187His) rs140649681
NM_006953.4(UPK3A):c.704+8C>A rs112177270
NM_006953.4(UPK3A):c.731C>T (p.Thr244Met) rs374008042
NM_006953.4(UPK3A):c.732G>A (p.Thr244=)
NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro) rs886057606
NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu) rs121918186

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