ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_006953.4(UPK3A):c.*107T>C rs558490093 0.00160
NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu) rs121918186 0.00136
NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn) rs145186308 0.00057
NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys) rs147406393 0.00031
NM_006953.4(UPK3A):c.450C>A (p.Gly150=) rs147160242 0.00021
NM_006953.4(UPK3A):c.731C>T (p.Thr244Met) rs374008042 0.00013
NM_006953.4(UPK3A):c.209-11C>T rs201838809 0.00011
NM_006953.4(UPK3A):c.480G>A (p.Thr160=) rs200247042 0.00008
NM_006953.4(UPK3A):c.560G>A (p.Arg187His) rs140649681 0.00006
NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg) rs139626522 0.00004
NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn) rs765876533 0.00003
NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro) rs886057606 0.00002
NM_006953.4(UPK3A):c.*42C>T rs746035232 0.00001
NM_006953.4(UPK3A):c.359G>A (p.Gly120Glu) rs1469984134 0.00001
NM_006953.4(UPK3A):c.361G>T (p.Asp121Tyr) rs779158798 0.00001
NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu) rs200941092
NM_006953.4(UPK3A):c.704+8C>A rs112177270
NM_006953.4(UPK3A):c.732G>A (p.Thr244=) rs749421617

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